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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1229984

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr4:99318162 (GRCh38.p13) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.068824 (18217/264690, TOPMED)
T=0.099936 (25123/251392, GnomAD_exome)
T=0.093623 (11366/121402, ExAC) (+ 21 more)
T=0.05779 (2524/43674, ALFA)
C=0.24284 (4070/16760, 8.3KJPN)
T=0.1585 (794/5008, 1000G)
T=0.0172 (77/4480, Estonian)
T=0.0306 (118/3854, ALSPAC)
T=0.0337 (125/3708, TWINSUK)
C=0.2413 (705/2922, KOREAN)
C=0.2320 (425/1832, Korea1K)
T=0.027 (27/998, GoNL)
T=0.000 (0/760, PRJEB37584)
C=0.310 (191/616, Vietnamese)
T=0.015 (9/600, NorthernSweden)
T=0.122 (65/534, MGP)
T=0.085 (44/520, SGDP_PRJ)
T=0.398 (141/354, PharmGKB)
T=0.199 (65/326, HapMap)
T=0.016 (5/304, FINRISK)
T=0.060 (13/216, Qatari)
T=0.03 (2/78, Ancient Sardinia)
T=0.02 (1/54, Siberian)
T=0.00 (0/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ADH1B : Missense Variant
Publications
214 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p13 chr 4 NC_000004.12:g.99318162T>C
GRCh38.p13 chr 4 NC_000004.12:g.99318162T>G
GRCh37.p13 chr 4 NC_000004.11:g.100239319T>C
GRCh37.p13 chr 4 NC_000004.11:g.100239319T>G
ADH1B RefSeqGene NG_011435.1:g.8254A>G
ADH1B RefSeqGene NG_011435.1:g.8254A>C
Gene: ADH1B, alcohol dehydrogenase 1B (class I), beta polypeptide (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ADH1B transcript variant 1 NM_000668.6:c.143A>G H [CAC] > R [CGC] Coding Sequence Variant
all-trans-retinol dehydrogenase [NAD(+)] ADH1B isoform 1 NP_000659.2:p.His48Arg H (His) > R (Arg) Missense Variant
ADH1B transcript variant 1 NM_000668.6:c.143A>C H [CAC] > P [CCC] Coding Sequence Variant
all-trans-retinol dehydrogenase [NAD(+)] ADH1B isoform 1 NP_000659.2:p.His48Pro H (His) > P (Pro) Missense Variant
ADH1B transcript variant 2 NM_001286650.2:c.23A>G H [CAC] > R [CGC] Coding Sequence Variant
all-trans-retinol dehydrogenase [NAD(+)] ADH1B isoform 2 NP_001273579.1:p.His8Arg H (His) > R (Arg) Missense Variant
ADH1B transcript variant 2 NM_001286650.2:c.23A>C H [CAC] > P [CCC] Coding Sequence Variant
all-trans-retinol dehydrogenase [NAD(+)] ADH1B isoform 2 NP_001273579.1:p.His8Pro H (His) > P (Pro) Missense Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: T= (allele ID: 33221 )
ClinVar Accession Disease Names Clinical Significance
RCV000019813.3 Alcohol dependence Protective
RCV000019814.4 Aerodigestive tract cancer, squamous cell, alcohol-related, protection against Protective

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 43674 T=0.05779 C=0.94221, G=0.00000
European Sub 39206 T=0.04808 C=0.95192, G=0.00000
African Sub 1166 T=0.0832 C=0.9168, G=0.0000
African Others Sub 14 T=0.07 C=0.93, G=0.00
African American Sub 1152 T=0.0833 C=0.9167, G=0.0000
Asian Sub 162 T=0.827 C=0.173, G=0.000
East Asian Sub 118 T=0.814 C=0.186, G=0.000
Other Asian Sub 44 T=0.86 C=0.14, G=0.00
Latin American 1 Sub 6 T=1.0 C=0.0, G=0.0
Latin American 2 Sub 20 T=0.00 C=1.00, G=0.00
South Asian Sub 6 T=0.2 C=0.8, G=0.0
Other Sub 3108 T=0.1290 C=0.8710, G=0.0000


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 T=0.068824 C=0.931176
gnomAD - Exomes Global Study-wide 251392 T=0.099936 C=0.900064
gnomAD - Exomes European Sub 135342 T=0.032902 C=0.967098
gnomAD - Exomes Asian Sub 49004 T=0.30887 C=0.69113
gnomAD - Exomes American Sub 34584 T=0.05641 C=0.94359
gnomAD - Exomes African Sub 16254 T=0.01101 C=0.98899
gnomAD - Exomes Ashkenazi Jewish Sub 10074 T=0.27020 C=0.72980
gnomAD - Exomes Other Sub 6134 T=0.1112 C=0.8888
ExAC Global Study-wide 121402 T=0.093623 C=0.906377
ExAC Europe Sub 73352 T=0.04578 C=0.95422
ExAC Asian Sub 25158 T=0.28202 C=0.71798
ExAC American Sub 11578 T=0.05821 C=0.94179
ExAC African Sub 10406 T=0.01345 C=0.98655
ExAC Other Sub 908 T=0.109 C=0.891
Allele Frequency Aggregator Total Global 43674 T=0.05779 C=0.94221, G=0.00000
Allele Frequency Aggregator European Sub 39206 T=0.04808 C=0.95192, G=0.00000
Allele Frequency Aggregator Other Sub 3108 T=0.1290 C=0.8710, G=0.0000
Allele Frequency Aggregator African Sub 1166 T=0.0832 C=0.9168, G=0.0000
Allele Frequency Aggregator Asian Sub 162 T=0.827 C=0.173, G=0.000
Allele Frequency Aggregator Latin American 2 Sub 20 T=0.00 C=1.00, G=0.00
Allele Frequency Aggregator Latin American 1 Sub 6 T=1.0 C=0.0, G=0.0
Allele Frequency Aggregator South Asian Sub 6 T=0.2 C=0.8, G=0.0
8.3KJPN JAPANESE Study-wide 16760 T=0.75716 C=0.24284
1000Genomes Global Study-wide 5008 T=0.1585 C=0.8415
1000Genomes African Sub 1322 T=0.0015 C=0.9985
1000Genomes East Asian Sub 1008 T=0.6974 C=0.3026
1000Genomes Europe Sub 1006 T=0.0288 C=0.9712
1000Genomes South Asian Sub 978 T=0.020 C=0.980
1000Genomes American Sub 694 T=0.058 C=0.942
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.0172 C=0.9828
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.0306 C=0.9694
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.0337 C=0.9663
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.7587 C=0.2413
Korean Genome Project KOREAN Study-wide 1832 T=0.7680 C=0.2320
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.027 C=0.973
CNV burdens in cranial meningiomas Global Study-wide 760 T=0.000 C=1.000
CNV burdens in cranial meningiomas CRM Sub 760 T=0.000 C=1.000
A Vietnamese Genetic Variation Database Global Study-wide 616 T=0.690 C=0.310
Northern Sweden ACPOP Study-wide 600 T=0.015 C=0.985
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.122 C=0.878
SGDP_PRJ Global Study-wide 520 T=0.085 C=0.915
PharmGKB Aggregated Global Study-wide 354 T=0.398 C=0.602
PharmGKB Aggregated PA150162958 Sub 354 T=0.398 C=0.602
HapMap Global Study-wide 326 T=0.199 C=0.801
HapMap American Sub 120 T=0.000 C=1.000
HapMap African Sub 118 T=0.000 C=1.000
HapMap Asian Sub 88 T=0.74 C=0.26
FINRISK Finnish from FINRISK project Study-wide 304 T=0.016 C=0.984
Qatari Global Study-wide 216 T=0.060 C=0.940
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 78 T=0.03 C=0.97
Siberian Global Study-wide 54 T=0.02 C=0.98
The Danish reference pan genome Danish Study-wide 40 T=0.00 C=1.00
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement T= C G
GRCh38.p13 chr 4 NC_000004.12:g.99318162= NC_000004.12:g.99318162T>C NC_000004.12:g.99318162T>G
GRCh37.p13 chr 4 NC_000004.11:g.100239319= NC_000004.11:g.100239319T>C NC_000004.11:g.100239319T>G
ADH1B RefSeqGene NG_011435.1:g.8254= NG_011435.1:g.8254A>G NG_011435.1:g.8254A>C
ADH1B transcript variant 1 NM_000668.6:c.143= NM_000668.6:c.143A>G NM_000668.6:c.143A>C
ADH1B transcript variant 1 NM_000668.5:c.143= NM_000668.5:c.143A>G NM_000668.5:c.143A>C
ADH1B transcript NM_000668.4:c.143= NM_000668.4:c.143A>G NM_000668.4:c.143A>C
ADH1B transcript variant 2 NM_001286650.2:c.23= NM_001286650.2:c.23A>G NM_001286650.2:c.23A>C
ADH1B transcript variant 2 NM_001286650.1:c.23= NM_001286650.1:c.23A>G NM_001286650.1:c.23A>C
all-trans-retinol dehydrogenase [NAD(+)] ADH1B isoform 1 NP_000659.2:p.His48= NP_000659.2:p.His48Arg NP_000659.2:p.His48Pro
all-trans-retinol dehydrogenase [NAD(+)] ADH1B isoform 2 NP_001273579.1:p.His8= NP_001273579.1:p.His8Arg NP_001273579.1:p.His8Pro
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

134 SubSNP, 26 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 KWOK ss1823175 Oct 18, 2000 (87)
2 SC_JCM ss2655553 Nov 09, 2000 (92)
3 KIDDLAB ss2978360 Apr 12, 2001 (94)
4 SNP500CANCER ss5586189 Mar 31, 2003 (113)
5 RIKENSNPRC ss5600838 Dec 12, 2002 (110)
6 BCM_SSAHASNP ss10139453 Jul 11, 2003 (116)
7 CGAP-GAI ss16223319 Feb 28, 2004 (126)
8 SSAHASNP ss22191417 Apr 05, 2004 (121)
9 SEQUENOM ss24796218 Sep 20, 2004 (124)
10 MGC_GENOME_DIFF ss28511270 Sep 24, 2004 (126)
11 EGP_SNPS ss38318483 May 24, 2005 (125)
12 ABI ss44577109 Mar 10, 2006 (126)
13 IMCJ-GDT ss46563492 Mar 10, 2006 (126)
14 PERLEGEN ss68906232 May 17, 2007 (127)
15 AFFY ss74812533 Aug 16, 2007 (128)
16 CGM_KYOTO ss76859986 Dec 07, 2007 (129)
17 HGSV ss78092337 Dec 07, 2007 (129)
18 PHARMGKB_AB_DME ss84160838 Dec 14, 2007 (130)
19 BCMHGSC_JDW ss92703408 Mar 24, 2008 (129)
20 HUMANGENOME_JCVI ss98848024 Feb 04, 2009 (130)
21 1000GENOMES ss108171383 Jan 23, 2009 (130)
22 ILLUMINA-UK ss117113812 Feb 14, 2009 (130)
23 ENSEMBL ss135207743 Dec 01, 2009 (131)
24 ENSEMBL ss139782341 Dec 01, 2009 (131)
25 ILLUMINA ss153169347 Dec 01, 2009 (131)
26 ILLUMINA ss159211565 Dec 01, 2009 (131)
27 SEATTLESEQ ss159708127 Dec 01, 2009 (131)
28 COMPLETE_GENOMICS ss162380675 Jul 04, 2010 (132)
29 COMPLETE_GENOMICS ss163917802 Jul 04, 2010 (132)
30 COMPLETE_GENOMICS ss166944274 Jul 04, 2010 (132)
31 ILLUMINA ss171989760 Jul 04, 2010 (132)
32 BUSHMAN ss198921678 Jul 04, 2010 (132)
33 BCM-HGSC-SUB ss206528062 Jul 04, 2010 (132)
34 1000GENOMES ss221098960 Jul 14, 2010 (132)
35 1000GENOMES ss232515275 Jul 14, 2010 (132)
36 1000GENOMES ss239780206 Jul 15, 2010 (132)
37 ILLUMINA ss244275961 Jul 04, 2010 (132)
38 BL ss253372406 May 09, 2011 (134)
39 OMIM-CURATED-RECORDS ss275513861 Nov 22, 2010 (133)
40 GMI ss277844561 May 04, 2012 (137)
41 GMI ss284967934 Apr 25, 2013 (138)
42 PJP ss293147601 May 09, 2011 (134)
43 NHLBI-ESP ss342168331 May 09, 2011 (134)
44 PAGE_STUDY ss469414444 May 04, 2012 (137)
45 PAGE_STUDY ss469415009 May 04, 2012 (137)
46 1000GENOMES ss490891939 May 04, 2012 (137)
47 EXOME_CHIP ss491358887 May 04, 2012 (137)
48 CLINSEQ_SNP ss491857770 May 04, 2012 (137)
49 TISHKOFF ss557721454 Apr 25, 2013 (138)
50 SSMP ss651525947 Apr 25, 2013 (138)
51 ILLUMINA ss783514081 Aug 21, 2014 (142)
52 ILLUMINA ss832723974 Jul 13, 2019 (153)
53 JMKIDD_LAB ss974453459 Aug 21, 2014 (142)
54 EVA-GONL ss980450662 Aug 21, 2014 (142)
55 JMKIDD_LAB ss1067463125 Aug 21, 2014 (142)
56 JMKIDD_LAB ss1071787507 Aug 21, 2014 (142)
57 1000GENOMES ss1310981694 Aug 21, 2014 (142)
58 DDI ss1429982874 Apr 01, 2015 (144)
59 EVA_GENOME_DK ss1580687651 Apr 01, 2015 (144)
60 EVA_FINRISK ss1584035506 Apr 01, 2015 (144)
61 EVA_DECODE ss1589954751 Apr 01, 2015 (144)
62 EVA_UK10K_ALSPAC ss1610737388 Apr 01, 2015 (144)
63 EVA_UK10K_TWINSUK ss1653731421 Apr 01, 2015 (144)
64 EVA_EXAC ss1687583967 Apr 01, 2015 (144)
65 EVA_MGP ss1711067214 Apr 01, 2015 (144)
66 HAMMER_LAB ss1801910149 Sep 08, 2015 (146)
67 WEILL_CORNELL_DGM ss1923690705 Feb 12, 2016 (147)
68 ILLUMINA ss1958706912 Feb 12, 2016 (147)
69 ILLUMINA ss1958706914 Feb 12, 2016 (147)
70 GENOMED ss1969816922 Jul 19, 2016 (147)
71 JJLAB ss2022431316 Sep 14, 2016 (149)
72 ILLUMINA ss2094816086 Dec 20, 2016 (150)
73 ILLUMINA ss2095146281 Dec 20, 2016 (150)
74 USC_VALOUEV ss2150560484 Dec 20, 2016 (150)
75 HUMAN_LONGEVITY ss2265429390 Dec 20, 2016 (150)
76 TOPMED ss2433247948 Dec 20, 2016 (150)
77 SYSTEMSBIOZJU ss2625714548 Nov 08, 2017 (151)
78 ILLUMINA ss2634154584 Nov 08, 2017 (151)
79 ILLUMINA ss2634154585 Nov 08, 2017 (151)
80 ILLUMINA ss2635134991 Nov 08, 2017 (151)
81 GRF ss2706037251 Nov 08, 2017 (151)
82 ILLUMINA ss2711011747 Nov 08, 2017 (151)
83 GNOMAD ss2734649193 Nov 08, 2017 (151)
84 GNOMAD ss2747278685 Nov 08, 2017 (151)
85 GNOMAD ss2812860208 Nov 08, 2017 (151)
86 AFFY ss2985298878 Nov 08, 2017 (151)
87 AFFY ss2985926777 Nov 08, 2017 (151)
88 SWEGEN ss2995211293 Nov 08, 2017 (151)
89 ILLUMINA ss3022398580 Nov 08, 2017 (151)
90 ILLUMINA ss3022398581 Nov 08, 2017 (151)
91 BIOINF_KMB_FNS_UNIBA ss3024990923 Nov 08, 2017 (151)
92 CSHL ss3345862048 Nov 08, 2017 (151)
93 TOPMED ss3437253037 Nov 08, 2017 (151)
94 TOPMED ss3437253038 Nov 08, 2017 (151)
95 ILLUMINA ss3625850230 Oct 12, 2018 (152)
96 ILLUMINA ss3634963459 Oct 12, 2018 (152)
97 ILLUMINA ss3638501770 Oct 12, 2018 (152)
98 ILLUMINA ss3640670752 Oct 12, 2018 (152)
99 OMUKHERJEE_ADBS ss3646310677 Oct 12, 2018 (152)
100 URBANLAB ss3647802775 Oct 12, 2018 (152)
101 ILLUMINA ss3652884819 Oct 12, 2018 (152)
102 ILLUMINA ss3652884820 Oct 12, 2018 (152)
103 ILLUMINA ss3652884821 Oct 12, 2018 (152)
104 ILLUMINA ss3652884822 Oct 12, 2018 (152)
105 ILLUMINA ss3654070747 Oct 12, 2018 (152)
106 EGCUT_WGS ss3663107239 Jul 13, 2019 (153)
107 EVA_DECODE ss3712657833 Jul 13, 2019 (153)
108 ILLUMINA ss3726155687 Jul 13, 2019 (153)
109 ACPOP ss3731422249 Jul 13, 2019 (153)
110 ILLUMINA ss3745263718 Jul 13, 2019 (153)
111 EVA ss3762167527 Jul 13, 2019 (153)
112 PACBIO ss3784802107 Jul 13, 2019 (153)
113 PACBIO ss3790246744 Jul 13, 2019 (153)
114 PACBIO ss3795122147 Jul 13, 2019 (153)
115 KHV_HUMAN_GENOMES ss3805315977 Jul 13, 2019 (153)
116 EVA ss3824035087 Apr 26, 2020 (154)
117 EVA ss3825661667 Apr 26, 2020 (154)
118 EVA ss3828703814 Apr 26, 2020 (154)
119 EVA ss3837792999 Apr 26, 2020 (154)
120 EVA ss3843231396 Apr 26, 2020 (154)
121 SGDP_PRJ ss3859611601 Apr 26, 2020 (154)
122 KRGDB ss3905889044 Apr 26, 2020 (154)
123 KOGIC ss3954743031 Apr 26, 2020 (154)
124 FSA-LAB ss3984289969 Apr 26, 2021 (155)
125 FSA-LAB ss3984289970 Apr 26, 2021 (155)
126 EVA ss3984532260 Apr 26, 2021 (155)
127 EVA ss3985085369 Apr 26, 2021 (155)
128 EVA ss3986028260 Apr 26, 2021 (155)
129 EVA ss3986287282 Apr 26, 2021 (155)
130 TOPMED ss4624658262 Apr 26, 2021 (155)
131 TOMMO_GENOMICS ss5167080442 Apr 26, 2021 (155)
132 EVA ss5236853445 Apr 26, 2021 (155)
133 EVA ss5237008010 Apr 26, 2021 (155)
134 EVA ss5237182987 Apr 26, 2021 (155)
135 1000Genomes NC_000004.11 - 100239319 Oct 12, 2018 (152)
136 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 100239319 Oct 12, 2018 (152)
137 Genetic variation in the Estonian population NC_000004.11 - 100239319 Oct 12, 2018 (152)
138 ExAC NC_000004.11 - 100239319 Oct 12, 2018 (152)
139 FINRISK NC_000004.11 - 100239319 Apr 26, 2020 (154)
140 The Danish reference pan genome NC_000004.11 - 100239319 Apr 26, 2020 (154)
141 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 158848463 (NC_000004.12:99318161:T:C 132934/140198)
Row 158848464 (NC_000004.12:99318161:T:G 1/140206)

- Apr 26, 2021 (155)
142 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 158848463 (NC_000004.12:99318161:T:C 132934/140198)
Row 158848464 (NC_000004.12:99318161:T:G 1/140206)

- Apr 26, 2021 (155)
143 gnomAD - Exomes NC_000004.11 - 100239319 Jul 13, 2019 (153)
144 Genome of the Netherlands Release 5 NC_000004.11 - 100239319 Apr 26, 2020 (154)
145 HapMap NC_000004.12 - 99318162 Apr 26, 2020 (154)
146 KOREAN population from KRGDB NC_000004.11 - 100239319 Apr 26, 2020 (154)
147 Korean Genome Project NC_000004.12 - 99318162 Apr 26, 2020 (154)
148 Medical Genome Project healthy controls from Spanish population NC_000004.11 - 100239319 Apr 26, 2020 (154)
149 Northern Sweden NC_000004.11 - 100239319 Jul 13, 2019 (153)
150 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000004.11 - 100239319 Apr 26, 2021 (155)
151 CNV burdens in cranial meningiomas NC_000004.11 - 100239319 Apr 26, 2021 (155)
152 PharmGKB Aggregated NC_000004.12 - 99318162 Apr 26, 2020 (154)
153 Qatari NC_000004.11 - 100239319 Apr 26, 2020 (154)
154 SGDP_PRJ NC_000004.11 - 100239319 Apr 26, 2020 (154)
155 Siberian NC_000004.11 - 100239319 Apr 26, 2020 (154)
156 8.3KJPN NC_000004.11 - 100239319 Apr 26, 2021 (155)
157 TopMed NC_000004.12 - 99318162 Apr 26, 2021 (155)
158 UK 10K study - Twins NC_000004.11 - 100239319 Oct 12, 2018 (152)
159 A Vietnamese Genetic Variation Database NC_000004.11 - 100239319 Jul 13, 2019 (153)
160 ALFA NC_000004.12 - 99318162 Apr 26, 2021 (155)
161 ClinVar RCV000019813.3 Oct 12, 2018 (152)
162 ClinVar RCV000019814.4 Oct 12, 2018 (152)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs1789884 Jan 18, 2001 (92)
rs11537716 Mar 10, 2006 (126)
rs17028836 Dec 02, 2004 (124)
rs17856968 Mar 10, 2006 (126)
rs52797169 Sep 21, 2007 (128)
rs57624638 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78092337 NC_000004.9:100596496:T:C NC_000004.12:99318161:T:C (self)
ss92703408, ss108171383, ss117113812, ss162380675, ss163917802, ss166944274, ss198921678, ss206528062, ss253372406, ss277844561, ss284967934, ss293147601, ss491857770, ss1589954751, ss2635134991 NC_000004.10:100458341:T:C NC_000004.12:99318161:T:C (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

214 citations for rs1229984
PMID Title Author Year Journal
2398055 Expression and kinetic characterization of variants of human beta 1 beta 1 alcohol dehydrogenase containing substitutions at amino acid 47. Hurley TD et al. 1990 The Journal of biological chemistry
2547609 The genes for human alcohol dehydrogenases beta 1 and beta 2 differ by only one nucleotide. Matsuo Y et al. 1989 European journal of biochemistry
6374651 Human liver alcohol dehydrogenase: amino acid substitution in the beta 2 beta 2 Oriental isozyme explains functional properties, establishes an active site structure, and parallels mutational exchanges in the yeast enzyme. Jörnvall H et al. 1984 Proceedings of the National Academy of Sciences of the United States of America
10090900 Linkage disequilibrium at the ADH2 and ADH3 loci and risk of alcoholism. Osier M et al. 1999 American journal of human genetics
11545539 ADH2 and alcohol-related phenotypes in Ashkenazic Jewish American college students. Shea SH et al. 2001 Behavior genetics
12050823 A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and diversity. Osier MV et al. 2002 American journal of human genetics
12244546 Influence of ADH1B polymorphism on alcohol use and its subjective effects in a Jewish population. Carr LG et al. 2002 American journal of medical genetics
12452180 Alcohol dehydrogenase and alcohol dependence: variation in genotype-associated risk between populations. Whitfield JB et al. 2002 American journal of human genetics
15534263 Alcohol dehydrogenase 2 variant is associated with cerebral infarction and lacunae. Suzuki Y et al. 2004 Neurology
15863807 Alcohol and aldehyde dehydrogenase polymorphisms in men with type I and Type II alcoholism. Chai YG et al. 2005 The American journal of psychiatry
15911586 Effects of natural selection on interpopulation divergence at polymorphic sites in human protein-coding Loci. Hughes AL et al. 2005 Genetics
16255080 A haplotype map of the human genome. International HapMap Consortium. et al. 2005 Nature
16614111 Evidence for an important role of alcohol- and aldehyde-metabolizing genes in cancers of the upper aerodigestive tract. Hashibe M et al. 2006 Cancer epidemiology, biomarkers & prevention
16685648 Diplotype trend regression analysis of the ADH gene cluster and the ALDH2 gene: multiple significant associations with alcohol dependence. Luo X et al. 2006 American journal of human genetics
17185388 Multiple ADH genes modulate risk for drug dependence in both African- and European-Americans. Luo X et al. 2007 Human molecular genetics
17273965 Evidence of positive selection on a class I ADH locus. Han Y et al. 2007 American journal of human genetics
17718394 The genetics of alcohol metabolism: role of alcohol dehydrogenase and aldehyde dehydrogenase variants. Edenberg HJ et al. 2007 Alcohol research & health
17847010 Geographically separate increases in the frequency of the derived ADH1B*47His allele in eastern and western Asia. Li H et al. 2007 American journal of human genetics
17923853 Alcoholism and alcohol drinking habits predicted from alcohol dehydrogenase genes. Tolstrup JS et al. 2008 The pharmacogenomics journal
18056758 Major genetic components underlying alcoholism in Korean population. Kim DJ et al. 2008 Human molecular genetics
18331377 Association of ADH and ALDH genes with alcohol dependence in the Irish Affected Sib Pair Study of alcohol dependence (IASPSAD) sample. Kuo PH et al. 2008 Alcoholism, clinical and experimental research
18382665 Ethnic related selection for an ADH Class I variant within East Asia. Li H et al. 2008 PloS one
18500343 Multiple ADH genes are associated with upper aerodigestive cancers. Hashibe M et al. 2008 Nature genetics
18518925 Genetic susceptibility to heroin addiction: a candidate gene association study. Levran O et al. 2008 Genes, brain, and behavior
18936436 Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994. Chang MH et al. 2009 American journal of epidemiology
18996923 Associations of ADH and ALDH2 gene variation with self report alcohol reactions, consumption and dependence: an integrated analysis. Macgregor S et al. 2009 Human molecular genetics
19124091 Distribution of the alcohol dehydrogenase ADH1B*47His allele in Eurasia. Borinskaya S et al. 2009 American journal of human genetics
19193628 ADH single nucleotide polymorphism associations with alcohol metabolism in vivo. Birley AJ et al. 2009 Human molecular genetics
19262484 Gene-environmental interaction regarding alcohol-metabolizing enzymes in the Japanese general population. Tsuchihashi-Makaya M et al. 2009 Hypertension research
19298322 Associations and interactions between SNPs in the alcohol metabolizing genes and alcoholism phenotypes in European Americans. Sherva R et al. 2009 Alcoholism, clinical and experimental research
19486361 Alcohol dehydrogenase 2 genotype and risk for migraine. García-Martín E et al. 2010 Headache
19526455 ADH1A variation predisposes to personality traits and substance dependence. Zuo L et al. 2010 American journal of medical genetics. Part B, Neuropsychiatric genetics
19687126 A non-synonymous variant in ADH1B is strongly associated with prenatal alcohol use in a European sample of pregnant women. Zuccolo L et al. 2009 Human molecular genetics
19698717 Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk. Cui R et al. 2009 Gastroenterology
19737746 Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation. Xue Y et al. 2009 Genetics
19826048 Candidate gene association study of esophageal squamous cell carcinoma in a high-risk region in Iran. Akbari MR et al. 2009 Cancer research
19861527 Impact of multiple alcohol dehydrogenase gene polymorphisms on risk of upper aerodigestive tract cancers in a Japanese population. Oze I et al. 2009 Cancer epidemiology, biomarkers & prevention
20089146 The ADH1B Arg47His polymorphism in east Asian populations and expansion of rice domestication in history. Peng Y et al. 2010 BMC evolutionary biology
20100738 Prevalence and persistence of chromosomal damage and susceptible genotypes of metabolic and DNA repair genes in Chinese vinyl chloride-exposed workers. Ji F et al. 2010 Carcinogenesis
20158305 Associations between ADH gene variants and alcohol phenotypes in Dutch adults. van Beek JH et al. 2010 Twin research and human genetics
20205700 Genetic determinants of both ethanol and acetaldehyde metabolism influence alcohol hypersensitivity and drinking behaviour among Scandinavians. Linneberg A et al. 2010 Clinical and experimental allergy
20219057 ADH1B*2 allele is protective against alcoholism but not chronic liver disease in the Hungarian population. Toth R et al. 2010 Addiction (Abingdon, England)
20332099 A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. Kalsi G et al. 2010 Human molecular genetics
20336794 A single nucleotide polymorphism in the alcohol dehydrogenase 7 gene (alanine to glycine substitution at amino acid 92) is associated with the risk of squamous cell carcinoma of the head and neck. Wei S et al. 2010 Cancer
20505153 A compendium of genome-wide associations for cancer: critical synopsis and reappraisal. Ioannidis JP et al. 2010 Journal of the National Cancer Institute
20585100 Genome-wide association studies of cancer. Stadler ZK et al. 2010 Journal of clinical oncology
20700531 The association of alcohol and alcohol metabolizing gene variants with diabetes and coronary heart disease risk factors in a white population. Husemoen LL et al. 2010 PloS one
20810466 Maternal alcohol consumption, alcohol metabolism genes, and the risk of oral clefts: a population-based case-control study in Norway, 1996-2001. Boyles AL et al. 2010 American journal of epidemiology
20833657 Strong interaction between the effects of alcohol consumption and smoking on oesophageal squamous cell carcinoma among individuals with ADH1B and/or ALDH2 risk alleles. Tanaka F et al. 2010 Gut
21083667 Haplotype-based study of the association of alcohol-metabolizing genes with alcohol dependence in four independent populations. Liu J et al. 2011 Alcoholism, clinical and experimental research
21143251 A candidate gene association study of alcohol consumption in young women. Agrawal A et al. 2011 Alcoholism, clinical and experimental research
21168396 Variation in the ADH1B proximal promoter affects expression. Pochareddy S et al. 2011 Chemico-biological interactions
21303386 Alcohol-metabolizing enzyme gene polymorphisms in the Basque Country, Morocco, and Ecuador. Celorrio D et al. 2011 Alcoholism, clinical and experimental research
21338875 Genetic vulnerability and susceptibility to substance dependence. Bierut LJ et al. 2011 Neuron
21351086 Shortened telomeres in individuals with abuse in alcohol consumption. Pavanello S et al. 2011 International journal of cancer
21372407 Confirmation of ALDH2 as a Major locus of drinking behavior and of its variants regulating multiple metabolic phenotypes in a Japanese population. Takeuchi F et al. 2011 Circulation journal
21378355 Alcohol-dehydrogenase (ADH1B) Arg48His polymorphism in Basque Country patients with oral and laryngeal cancer: preliminary study. Marichalar-Mendia X et al. 2011 Anticancer research
21437268 A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. McKay JD et al. 2011 PLoS genetics
21467728 Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study. Wakai K et al. 2011 Journal of epidemiology
21497796 Strong association of the alcohol dehydrogenase 1B gene (ADH1B) with alcohol dependence and alcohol-induced medical diseases. Li D et al. 2011 Biological psychiatry
21576033 ADH1B and ALDH2 polymorphisms and their associations with increased risk of squamous cell carcinoma of the head and neck in the Korean population. Ji YB et al. 2011 Oral oncology
21592108 Diversification of the ADH1B gene during expansion of modern humans. Li H et al. 2011 Annals of human genetics
21635275 Association of alcohol dehydrogenase genes with alcohol-related phenotypes in a Native American community sample. Gizer IR et al. 2011 Alcoholism, clinical and experimental research
21807602 Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations. Zhang G et al. 2011 Human genomics
21895720 Alcohol dehydrogenase-1B Arg47His polymorphism and upper aerodigestive tract cancer risk: a meta-analysis including 24,252 subjects. Guo H et al. 2012 Alcoholism, clinical and experimental research
21900886 Pharmacogenetics of naltrexone in asian americans: a randomized placebo-controlled laboratory study. Ray LA et al. 2012 Neuropsychopharmacology
21917409 Alcohol drinking, mean corpuscular volume of erythrocytes, and alcohol metabolic genotypes in drunk drivers. Pavanello S et al. 2012 Alcohol (Fayetteville, N.Y.)
21926110 Population-specific genetic associations with oesophageal squamous cell carcinoma in South Africa. Bye H et al. 2011 Carcinogenesis
21940907 Joint effects of alcohol consumption and polymorphisms in alcohol and oxidative stress metabolism genes on risk of head and neck cancer. Hakenewerth AM et al. 2011 Cancer epidemiology, biomarkers & prevention
21968928 ADH1B is associated with alcohol dependence and alcohol consumption in populations of European and African ancestry. Bierut LJ et al. 2012 Molecular psychiatry
22048268 Combined effect of ADH1B RS1229984, RS2066702 and ADH1C RS1693482/ RS698 alleles on alcoholism and chronic liver diseases. Tóth R et al. 2011 Disease markers
22052802 Gene-environment interactions of novel variants associated with head and neck cancer. Liang C et al. 2012 Head & neck
22144473 Genetic variation in alcohol dehydrogenase (ADH1A, ADH1B, ADH1C, ADH7) and aldehyde dehydrogenase (ALDH2), alcohol consumption and gastric cancer risk in the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort. Duell EJ et al. 2012 Carcinogenesis
22150722 ADH1B polymorphism, alcohol consumption, and binge drinking in Slavic Caucasians: results from the Czech HAPIEE study. Hubacek JA et al. 2012 Alcoholism, clinical and experimental research
22301922 Measuring alcohol consumption for genomic meta-analyses of alcohol intake: opportunities and challenges. Agrawal A et al. 2012 The American journal of clinical nutrition
22325912 Determination of the effects of alcohol dehydrogenase (ADH) 1B and ADH1C polymorphisms on alcohol dependence in Turkey. Aktas EO et al. 2012 Science & justice
22331481 Alcohol, genetics and risk of breast cancer in the Prostate, Lung, Colorectal and Ovarian (PLCO) Cancer Screening Trial. McCarty CA et al. 2012 Breast cancer research and treatment
22332091 Recent advances in understanding the role of nutrition in human genome evolution. Ye K et al. 2011 Advances in nutrition (Bethesda, Md.)
22363810 Alcohol consumption, genetic variants in alcohol deydrogenases, and risk of cardiovascular diseases: a prospective study and meta-analysis. Drogan D et al. 2012 PloS one
22507220 Epidemiologic differences in esophageal cancer between Asian and Western populations. Zhang HZ et al. 2012 Chinese journal of cancer
22560290 A comparison of Val81Met and other polymorphisms of alcohol metabolising genes in patients and controls in Northern Spain. Celorrio D et al. 2012 Alcohol (Fayetteville, N.Y.)
22640768 The genetic basis of addictive disorders. Ducci F et al. 2012 The Psychiatric clinics of North America
22655231 Sequence Variants and the Risk of Head and Neck Cancer: Pooled Analysis in the INHANCE Consortium. Chuang SC et al. 2011 Frontiers in oncology
22662130 Using prior information from the medical literature in GWAS of oral cancer identifies novel susceptibility variant on chromosome 4--the AdAPT method. Johansson M et al. 2012 PloS one
22674868 Genetic variants at 4q23 and 12q24 are associated with head and neck cancer risk in China. Yuan H et al. 2013 Molecular carcinogenesis
22675424 ADH1C Ile350Val polymorphism and cancer risk: evidence from 35 case-control studies. Xue Y et al. 2012 PloS one
22690706 Association of alcohol dehydrogenase polymorphisms and life-style factors with excessive alcohol intake within the Spanish population (EPIC-Spain). Muñoz X et al. 2012 Addiction (Abingdon, England)
22806211 The genetics of addiction-a translational perspective. Agrawal A et al. 2012 Translational psychiatry
22865593 Distinct genetic association at the PLCE1 locus with oesophageal squamous cell carcinoma in the South African population. Bye H et al. 2012 Carcinogenesis
22930414 Single nucleotide polymorphisms of ADH1B, ADH1C and ALDH2 genes and esophageal cancer: a population-based case-control study in China. Wu M et al. 2013 International journal of cancer
23088731 Tag single nucleotide polymorphisms of alcohol-metabolizing enzymes modify the risk of upper aerodigestive tract cancers: HapMap database analysis. Chung CS et al. 2014 Diseases of the esophagus
23149980 Alcohol dehydrogenase and aldehyde dehydrogenase gene polymorphisms, alcohol intake and the risk of colorectal cancer in the European Prospective Investigation into Cancer and Nutrition study. Ferrari P et al. 2012 European journal of clinical nutrition
23166662 Fetal alcohol exposure and IQ at age 8: evidence from a population-based birth-cohort study. Lewis SJ et al. 2012 PloS one
23176670 High diversity and no significant selection signal of human ADH1B gene in Tibet. Lu Y et al. 2012 Investigative genetics
23414439 Alcohol dehydrogenase-1B genotype (rs1229984) is a strong determinant of the relationship between body weight and alcohol intake in Japanese alcoholic men. Yokoyama A et al. 2013 Alcoholism, clinical and experimental research
23430454 Genetic variants at 4q21, 4q23 and 12q24 are associated with esophageal squamous cell carcinoma risk in a Chinese population. Gao Y et al. 2013 Human genetics
23456092 Extended genetic effects of ADH cluster genes on the risk of alcohol dependence: from GWAS to replication. Park BL et al. 2013 Human genetics
23629646 Epidemiology of esophageal cancer in Japan and China. Lin Y et al. 2013 Journal of epidemiology
23701534 Genetic instrumental variable studies of effects of prenatal risk factors. Wehby GL et al. 2013 Biodemography and social biology
23720673 Molecular epidemiology of DNA repair gene polymorphisms and head and neck cancer. Wang M et al. 2013 Journal of biomedical research
23806636 Prenatal alcohol exposure and childhood atopic disease: a Mendelian randomization approach. Shaheen SO et al. 2014 The Journal of allergy and clinical immunology
23895337 Alcohol-metabolizing genes and alcohol phenotypes in an Israeli household sample. Meyers JL et al. 2013 Alcoholism, clinical and experimental research
23969552 Blood ethanol levels of nonabstinent Japanese alcoholic men in the morning after drinking and their ADH1B and ALDH2 genotypes. Yokoyama A et al. 2014 Alcohol and alcoholism (Oxford, Oxfordshire)
24018899 The triangular association of ADH1B genetic polymorphism, alcohol consumption and the risk of depression in older men. Almeida OP et al. 2014 Molecular psychiatry
24065783 Prenatal alcohol exposure and offspring cognition and school performance. A 'Mendelian randomization' natural experiment. Zuccolo L et al. 2013 International journal of epidemiology
24093763 Genetic variant of single-nucleotide polymorphism is associated with risk of esophageal squamous cell carcinoma. Ye B et al. 2014 Genetic testing and molecular biomarkers
24114820 Genetic factors affecting susceptibility to alcoholic liver disease in an Indian population. Dutta AK et al. 2013 Annals of hepatology
24164917 Childhood adversity moderates the effect of ADH1B on risk for alcohol-related phenotypes in Jewish Israeli drinkers. Meyers JL et al. 2015 Addiction biology
24282520 Polymorphisms in alcohol metabolism genes ADH1B and ALDH2, alcohol consumption and colorectal cancer. Crous-Bou M et al. 2013 PloS one
24553426 Alcohol consumption and cognitive impairment in older men: a mendelian randomization study. Almeida OP et al. 2014 Neurology
24633362 ALDH2 and ADH1 genetic polymorphisms may contribute to the risk of gastric cancer: a meta-analysis. Wang HL et al. 2014 PloS one
24716453 Alcohol consumption and cognitive performance: a Mendelian randomization study. Kumari M et al. 2014 Addiction (Abingdon, England)
24735490 Genetic variants in or near ADH1B and ADH1C affect susceptibility to alcohol dependence in a British and Irish population. Way M et al. 2015 Addiction biology
25045619 The Genetics, Neurogenetics and Pharmacogenetics of Addiction. Demers CH et al. 2014 Current behavioral neuroscience reports
25047496 Synergistic association between two alcohol metabolism relevant genes and coronary artery disease among Chinese hypertensive patients. Wang Y et al. 2014 PloS one
25133033 Epidemiological studies of esophageal cancer in the era of genome-wide association studies. Wang AH et al. 2014 World journal of gastrointestinal pathophysiology
25192829 Testing for non-linear causal effects using a binary genotype in a Mendelian randomization study: application to alcohol and cardiovascular traits. Silverwood RJ et al. 2014 International journal of epidemiology
25266489 Genetic polymorphisms of VIP variants in the Tajik ethnic group of northwest China. Zhang J et al. 2014 BMC genetics
25323582 Alcohol dehydrogenase-1B Arg47His polymorphism is associated with head and neck cancer risk in Asian: a meta-analysis. Zhang Y et al. 2015 Tumour biology
25410943 The joint effects of ADH1B variants and childhood adversity on alcohol related phenotypes in African-American and European-American women and men. Sartor CE et al. 2014 Alcoholism, clinical and experimental research
25411394 Genetic alcohol sensitivity regulated by ALDH2 and ADH1B polymorphisms as indicator of mental disorders in Japanese employees. Yoshimasu K et al. 2015 Alcohol and alcoholism (Oxford, Oxfordshire)
25433705 Increased alcohol consumption as a cause of alcoholism, without similar evidence for depression: a Mendelian randomization study. Wium-Andersen MK et al. 2015 International journal of epidemiology
25543168 Genetic alcohol sensitivity regulated by ALDH2 and ADH1B polymorphisms is strongly associated with depression and anxiety in Japanese employees. Yoshimasu K et al. 2015 Drug and alcohol dependence
25573768 Effects of genetic variants of ADH1B and ALDH2 and social network on continued alcohol drinking among young adolescents in Taiwan. Ting TT et al. 2015 Drug and alcohol dependence
25639971 Polymorphisms in alcohol and tobacco metabolism genes in head and neck cancer in the Basque Country. Bediaga NG et al. 2015 Journal of oral pathology & medicine
25770642 Clinical features and prognostic factors in patients with head and neck cancer: Results from a multicentric study. Leoncini E et al. 2015 Cancer epidemiology
25828809 Which alcohol use disorder criteria contribute to the association of ADH1B with alcohol dependence? Hart AB et al. 2016 Addiction biology
26036284 Genomewide Association Study for Maximum Number of Alcoholic Drinks in European Americans and African Americans. Xu K et al. 2015 Alcoholism, clinical and experimental research
26044620 Gene network analysis shows immune-signaling and ERK1/2 as novel genetic markers for multiple addiction phenotypes: alcohol, smoking and opioid addiction. Reyes-Gibby CC et al. 2015 BMC systems biology
26091847 Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China. Wang L et al. 2015 BMC genetics
26125444 Family history of cancer and the risk of squamous cell carcinoma of oesophagus: a case-control study in Kashmir, India. Bhat GA et al. 2015 British journal of cancer
26232779 Differential Effect of Initiating Moderate Red Wine Consumption on 24-h Blood Pressure by Alcohol Dehydrogenase Genotypes: Randomized Trial in Type 2 Diabetes. Gepner Y et al. 2016 American journal of hypertension
26284938 Alcohol Dehydrogenase-1B (rs1229984) and Aldehyde Dehydrogenase-2 (rs671) Genotypes Are Strong Determinants of the Serum Triglyceride and Cholesterol Levels of Japanese Alcoholic Men. Yokoyama A et al. 2015 PloS one
26542604 Alcohol Dehydrogenase-1B (rs1229984) and Aldehyde Dehydrogenase-2 (rs671) Genotypes and Alcoholic Ketosis Are Associated with the Serum Uric Acid Level in Japanese Alcoholic Men. Yokoyama A et al. 2016 Alcohol and alcoholism (Oxford, Oxfordshire)
26588883 Moderate alcohol drinking in pregnancy increases risk for children's persistent conduct problems: causal effects in a Mendelian randomisation study. Murray J et al. 2016 Journal of child psychology and psychiatry, and allied disciplines
26644136 Excessive alcohol consumption increases mortality in later life: a genetic analysis of the health in men cohort study. Almeida OP et al. 2017 Addiction biology
26825972 Relationships of alcohol dehydrogenase 1B (ADH1B) and aldehyde dehydrogenase 2 (ALDH2) genotypes with alcohol sensitivity, drinking behavior and problem drinking in Japanese older men. Hashimoto M et al. 2016 Environmental health and preventive medicine
26827895 Alcohol Drinking Mediates the Association between Polymorphisms of ADH1B and ALDH2 and Hepatitis B-Related Hepatocellular Carcinoma. Liu J et al. 2016 Cancer epidemiology, biomarkers & prevention
26849558 Causal Role of Alcohol Consumption in an Improved Lipid Profile: The Atherosclerosis Risk in Communities (ARIC) Study. Vu KN et al. 2016 PloS one
26924531 Fast Principal-Component Analysis Reveals Convergent Evolution of ADH1B in Europe and East Asia. Galinsky KJ et al. 2016 American journal of human genetics
26937962 Genetic Association and Gene-Gene Interaction Reveal Genetic Variations in ADH1B, GSTM1 and MnSOD Independently Confer Risk to Alcoholic Liver Diseases in India. Roy N et al. 2016 PloS one
26992901 Aldehyde dehydrogenase 2 (ALDH2) and alcohol dehydrogenase 1B (ADH1B) polymorphisms exacerbate bladder cancer risk associated with alcohol drinking: gene-environment interaction. Masaoka H et al. 2016 Carcinogenesis
27038040 ADH1B and ALDH2 are associated with metachronous SCC after endoscopic submucosal dissection of esophageal squamous cell carcinoma. Kagemoto K et al. 2016 Cancer medicine
27079684 Genome-wide association studies and epigenome-wide association studies go together in cancer control. Verma M et al. 2016 Future oncology (London, England)
27233804 Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China. Jin T et al. 2016 BMC genetics
27294413 Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016. 2016 Human genomics
27588484 Gene-gene interactions in gastrointestinal cancer susceptibility. Kim J et al. 2016 Oncotarget
27643404 Alcohol consumption and prostate cancer incidence and progression: A Mendelian randomisation study. Brunner C et al. 2017 International journal of cancer
27688118 Single nucleotide polymorphisms as markers of genetic susceptibility for oral potentially malignant disorders risk: Review of evidence to date. Shridhar K et al. 2016 Oral oncology
27778410 Mendelian randomisation suggests no beneficial effect of moderate alcohol consumption on the severity of nonalcoholic fatty liver disease. Sookoian S et al. 2016 Alimentary pharmacology & therapeutics
27827401 Alcohol consumption, genetic variants in the alcohol- and folate metabolic pathways and colorectal cancer risk: the JPHC Study. Svensson T et al. 2016 Scientific reports
27927211 Genetic variations of aldehyde dehydrogenase 2 and alcohol dehydrogenase 1B are associated with the etiology of atrial fibrillation in Japanese. Nakano Y et al. 2016 Journal of biomedical science
27986911 Aldehyde Dehydrogenase 2 Polymorphism Is a Predictor of Smoking Cessation. Masaoka H et al. 2017 Nicotine & tobacco research
27991683 Platelet Counts and Genetic Polymorphisms of Alcohol Dehydrogenase-1B and Aldehyde Dehydrogenase-2 in Japanese Alcoholic Men. Yokoyama A et al. 2017 Alcoholism, clinical and experimental research
28212515 Combination of ALDH2 and ADH1B polymorphisms is associated with smoking initiation: A large-scale cross-sectional study in a Japanese population. Masaoka H et al. 2017 Drug and alcohol dependence
28349588 ADH1B: From alcoholism, natural selection, and cancer to the human phenome. Polimanti R et al. 2018 American journal of medical genetics. Part B, Neuropsychiatric genetics
28485404 Genetic contributors to variation in alcohol consumption vary by race/ethnicity in a large multi-ethnic genome-wide association study. Jorgenson E et al. 2017 Molecular psychiatry
28534462 Associations between alcohol dehydrogenase genes and alcohol use across early and middle adolescence: Moderation × Preventive intervention. Cleveland HH et al. 2018 Development and psychopathology
28566767 Independent effects of ADH1B and ALDH2 common dysfunctional variants on gout risk. Sakiyama M et al. 2017 Scientific reports
28805974 Effect of single-nucleotide polymorphisms in ADH1B, ADH4, ADH1C, OPRM1, DRD2, BDNF, and ALDH2 genes on alcohol dependence in a Caucasian population. Katsarou MS et al. 2017 Pharmacology research & perspectives
28833276 Analysis of the Association of Nonsynonymous Polymorphisms in ADH Genes with Hazardous Drinking in HIV-1-Positive Individuals. Wolf JM et al. 2017 Alcoholism, clinical and experimental research
28871186 Analysis of population-specific pharmacogenomic variants using next-generation sequencing data. Ahn E et al. 2017 Scientific reports
29045753 Association Between the rs1229984 Polymorphism in the Alcohol Dehydrogenase 1B Gene and Risk for Restless Legs Syndrome. Jiménez-Jiménez FJ et al. 2017 Sleep
29063269 Slow-metabolizing ADH1B and inactive heterozygous ALDH2 increase vulnerability to fatty liver in Japanese men with alcohol dependence. Yokoyama A et al. 2018 Journal of gastroenterology
29166882 Polymorphisms in ADH1B and ALDH2 genes associated with the increased risk of gastric cancer in West Bengal, India. Ghosh S et al. 2017 BMC cancer
29176272 Modification of the Associations of Alcohol Intake With Serum Low-Density Lipoprotein Cholesterol and Triglycerides by ALDH2 and ADH1B Polymorphisms in Japanese Men. Sasakabe T et al. 2018 Journal of epidemiology
29286190 Impact of alcohol dehydrogenase-aldehyde dehydrogenase polymorphism on clinical outcome in patients with hypopharyngeal cancer. Avinçsal MO et al. 2018 Head & neck
29616362 Association between ALDH2 and ADH1B polymorphisms, alcohol drinking and gastric cancer: a replication and mediation analysis. Ishioka K et al. 2018 Gastric cancer
29942042 A decade in psychiatric GWAS research. Horwitz T et al. 2019 Molecular psychiatry
29968299 Aldehyde dehydrogenase 2 polymorphism affects the outcome of methanol poisoning in exposed humans. Hubacek JA et al. 2018 Clinical genetics
29972609 AUDIT-C and ICD codes as phenotypes for harmful alcohol use: association with ADH1B polymorphisms in two US populations. Justice AC et al. 2018 Addiction (Abingdon, England)
30123371 Multiple Membrane Transporters and Some Immune Regulatory Genes are Major Genetic Factors to Gout. Zhu W et al. 2018 The open rheumatology journal
30173282 Construction of a risk model for the development of metachronous squamous cell carcinoma after endoscopic resection of esopahageal squamous cell carcinoma. Urabe Y et al. 2019 Esophagus
30205534 Recent Selection on a Class I ADH Locus Distinguishes Southwest Asian Populations Including Ashkenazi Jews. Gu S et al. 2018 Genes
30209858 Association of alcohol consumption with allergic disease and asthma: a multi-centre Mendelian randomization analysis. Skaaby T et al. 2019 Addiction (Abingdon, England)
30334266 ALDH2 Polymorphism rs671, but Not ADH1B Polymorphism rs1229984, Increases Risk for Hypo-HDL-Cholesterolemia in a/a Carriers Compared to the G/G Carriers. Imatoh T et al. 2018 Lipids
30371560 What is the effect of alcohol consumption on the risk of chronic widespread pain? A Mendelian randomisation study using UK Biobank. Beasley M et al. 2019 Pain
30374405 eLD: entropy-based linkage disequilibrium index between multiallelic sites. Okada Y et al. 2018 Human genome variation
30482948 Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders. Walters RK et al. 2018 Nature neuroscience
30483659 Sequencing of 231 forensic genetic markers using the MiSeq FGx™ forensic genomics system - an evaluation of the assay and software. Hussing C et al. 2018 Forensic sciences research
30483881 Association between the missense alcohol dehydrogenase rs1229984T variant with the risk for Parkinson's disease in women. García-Martín E et al. 2019 Journal of neurology
30629674 Endoscopic screening using esophageal iodine staining and genotypes of ADH1B and ALDH2 in Japanese alcohol-dependent women. Yokoyama A et al. 2019 PloS one
30660139 Distribution of ADH1B genotypes predisposed to enhanced alcohol consumption in the Czech Roma/Gypsy population. Hubáček JA et al. 2018 Central European journal of public health
30753320 Association of genetic variants in CHEK2 with oesophageal squamous cell carcinoma in the South African Black population. Chen WC et al. 2019 Carcinogenesis
30772781 Prenatal alcohol exposure and facial morphology in a UK cohort. Howe LJ et al. 2019 Drug and alcohol dependence
30793520 Cumulative evidence for association between genetic polymorphisms and esophageal cancer susceptibility: A review with evidence from meta-analysis and genome-wide association studies. Tian J et al. 2019 Cancer medicine
30842089 Alcohol-metabolizing Enzymes' Gene Polymorphisms and Susceptibility to Multiple Head and Neck Cancers. Chien HT et al. 2019 Cancer prevention research (Philadelphia, Pa.)
30872408 Association of <i>ADH1B</i> Arg47His polymorphism with the risk of cancer: a meta-analysis. Tan B et al. 2019 Bioscience reports
30955975 Conventional and genetic evidence on alcohol and vascular disease aetiology: a prospective study of 500 000 men and women in China. Millwood IY et al. 2019 Lancet (London, England)
30994927 The Genetic Relationship Between Alcohol Consumption and Aspects of Problem Drinking in an Ascertained Sample. Johnson EC et al. 2019 Alcoholism, clinical and experimental research
31011876 The prevalence of ADH1B and OPRM1 alleles predisposing for alcohol consumption are increased in the Hungarian psoriasis population. Szentkereszty-Kovács Z et al. 2019 Archives of dermatological research
31090166 Genome-wide association studies of alcohol dependence, DSM-IV criterion count and individual criteria. Lai D et al. 2019 Genes, brain, and behavior
31151762 Genome-wide Association Study of Maximum Habitual Alcohol Intake in &gt;140,000 U.S. European and African American Veterans Yields Novel Risk Loci. Gelernter J et al. 2019 Biological psychiatry
31366848 [Development of Novel Genotyping Protocol and Its Application for Genotyping of Alcohol Metabolism-related Genes]. Imai M et al. 2019 Yakugaku zasshi
31428123 Systematic Review of Genetic Factors in the Etiology of Esophageal Squamous Cell Carcinoma in African Populations. Simba H et al. 2019 Frontiers in genetics
31558841 Functional variants in ADH1B and ALDH2 are non-additively associated with all-cause mortality in Japanese population. Sakaue S et al. 2020 European journal of human genetics
31591379 Genome-wide association study of alcohol dependence in male Han Chinese and cross-ethnic polygenic risk score comparison. Sun Y et al. 2019 Translational psychiatry
31745073 Genetic evidence for assortative mating on alcohol consumption in the UK Biobank. Howe LJ et al. 2019 Nature communications
31767999 Genetic and shared couple environmental contributions to smoking and alcohol use in the UK population. Clarke TK et al. 2019 Molecular psychiatry
31818908 Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer. Montazeri Z et al. 2020 Gut
31845443 Associations among liver disease, serum lipid profile, body mass index, ketonuria, meal skipping, and the alcohol dehydrogenase-1B and aldehyde dehydrogenase-2 genotypes in Japanese men with alcohol dependence. Yokoyama A et al. 2020 Hepatology research
31998841 Functional validity, role, and implications of heavy alcohol consumption genetic loci. Thompson A et al. 2020 Science advances
32084087 Impacts of interactions between ADH1B and ALDH2 genotypes on alcohol flushing, alcohol reeking on the day after drinking, and age distribution in Japanese alcohol-dependent men. Yokoyama A et al. 2020 Pharmacogenetics and genomics
32107439 Association of alcohol dehydrogenase and aldehyde dehydrogenase Polymorphism with Spontaneous Deep Intracerebral Haemorrhage in the Taiwan population. Huang YH et al. 2020 Scientific reports
32223781 Folate, alcohol, <i>ADH1B</i> and <i>ALDH2</i> and colorectal cancer risk. Seol JE et al. 2020 Public health nutrition
32300124 Role of aldehyde dehydrogenases, alcohol dehydrogenase 1B genotype, alcohol consumption, and their combination in breast cancer in East-Asian women. Park B et al. 2020 Scientific reports
32337031 Association between rs1229984 in ADH1B and cancer prevalence in a Japanese population. Govind P et al. 2020 Molecular and clinical oncology
32454036 ADH1B∗2 Is Associated With Reduced Severity of Nonalcoholic Fatty Liver Disease in Adults, Independent of Alcohol Consumption. Vilar-Gomez E et al. 2020 Gastroenterology
33193720 Alcohol Use and Depression: A Mendelian Randomization Study From China. Zhu C et al. 2020 Frontiers in genetics
33249700 Risk factors for esophageal iodine-unstained lesions and changing trends among Japanese alcohol-dependent men (2003-2018). Yokoyama A et al. 2021 Cancer science
33421985 Association between ALDH2 and ADH1B Polymorphisms and the Risk for Colorectal Cancer in Koreans. Choi CK et al. 2021 Cancer research and treatment
33457110 An update on the role of common genetic variation underlying substance use disorders. Johnson EC et al. 2020 Current genetic medicine reports
33551739 Association Study of Alcohol Dehydrogenase and Aldehyde Dehydrogenase Polymorphism With Alzheimer Disease in the Taiwanese Population. Wu YY et al. 2021 Frontiers in neuroscience
33552962 Risk Factors and Genetic Biomarkers of Multiple Primary Cancers in Esophageal Cancer Patients. Yang PW et al. 2020 Frontiers in oncology
Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post596+ae089ad