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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.

rs698

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr4:99339632 (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>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.367943 (103810/282136, ALFA)
C=0.286849 (75926/264690, TOPMED)
C=0.345769 (85871/248348, GnomAD_exome) (+ 19 more)
C=0.314681 (43959/139694, GnomAD)
C=0.344391 (41557/120668, ExAC)
C=0.06086 (1020/16760, 8.3KJPN)
C=0.2143 (1073/5008, 1000G)
T=0.4991 (2236/4480, Estonian)
C=0.3975 (1532/3854, ALSPAC)
C=0.4102 (1521/3708, TWINSUK)
C=0.0580 (170/2930, KOREAN)
C=0.2010 (379/1886, HapMap)
C=0.408 (407/998, GoNL)
C=0.086 (68/790, PRJEB37584)
T=0.495 (297/600, NorthernSweden)
C=0.313 (167/534, MGP)
C=0.156 (56/358, PharmGKB)
T=0.404 (88/218, SGDP_PRJ)
C=0.310 (67/216, Qatari)
C=0.079 (17/216, Vietnamese)
C=0.40 (16/40, GENOME_DK)
T=0.31 (11/36, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ADH1C : Missense Variant
Publications
63 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.99339632T>A
GRCh38.p13 chr 4 NC_000004.12:g.99339632T>C
GRCh37.p13 chr 4 NC_000004.11:g.100260789T>A
GRCh37.p13 chr 4 NC_000004.11:g.100260789T>C
ADH1C RefSeqGene NG_011718.1:g.18129A>T
ADH1C RefSeqGene NG_011718.1:g.18129A>G
Gene: ADH1C, alcohol dehydrogenase 1C (class I), gamma polypeptide (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ADH1C transcript variant 1 NM_000669.5:c.1048A>T I [ATT] > F [TTT] Coding Sequence Variant
alcohol dehydrogenase 1C NP_000660.1:p.Ile350Phe I (Ile) > F (Phe) Missense Variant
ADH1C transcript variant 1 NM_000669.5:c.1048A>G I [ATT] > V [GTT] Coding Sequence Variant
alcohol dehydrogenase 1C NP_000660.1:p.Ile350Val I (Ile) > V (Val) Missense Variant
ADH1C transcript variant 2 NR_133005.2:n.1075A>T N/A Non Coding Transcript Variant
ADH1C transcript variant 2 NR_133005.2:n.1075A>G N/A Non Coding Transcript 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: C (allele ID: 33219 )
ClinVar Accession Disease Names Clinical Significance
RCV000019811.2 Alcohol dependence 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 282136 T=0.632057 A=0.000000, C=0.367943
European Sub 236086 T=0.608965 A=0.000000, C=0.391035
African Sub 7754 T=0.8835 A=0.0000, C=0.1165
African Others Sub 282 T=0.918 A=0.000, C=0.082
African American Sub 7472 T=0.8822 A=0.0000, C=0.1178
Asian Sub 6732 T=0.9235 A=0.0000, C=0.0765
East Asian Sub 4834 T=0.9303 A=0.0000, C=0.0697
Other Asian Sub 1898 T=0.9062 A=0.0000, C=0.0938
Latin American 1 Sub 1264 T=0.7634 A=0.0000, C=0.2366
Latin American 2 Sub 5538 T=0.6873 A=0.0000, C=0.3127
South Asian Sub 5156 T=0.6848 A=0.0000, C=0.3152
Other Sub 19606 T=0.67265 A=0.00000, C=0.32735


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=0.713151 C=0.286849
gnomAD - Exomes Global Study-wide 248348 T=0.654231 C=0.345769
gnomAD - Exomes European Sub 134632 T=0.579053 C=0.420947
gnomAD - Exomes Asian Sub 48270 T=0.76826 C=0.23174
gnomAD - Exomes American Sub 33798 T=0.67409 C=0.32591
gnomAD - Exomes African Sub 15576 T=0.85574 C=0.14426
gnomAD - Exomes Ashkenazi Jewish Sub 10042 T=0.73551 C=0.26449
gnomAD - Exomes Other Sub 6030 T=0.6527 C=0.3473
gnomAD - Genomes Global Study-wide 139694 T=0.685319 C=0.314681
gnomAD - Genomes European Sub 75748 T=0.57605 C=0.42395
gnomAD - Genomes African Sub 41796 T=0.85511 C=0.14489
gnomAD - Genomes American Sub 13564 T=0.70429 C=0.29571
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.7295 C=0.2705
gnomAD - Genomes East Asian Sub 3124 T=0.9171 C=0.0829
gnomAD - Genomes Other Sub 2138 T=0.7095 C=0.2905
ExAC Global Study-wide 120668 T=0.655609 C=0.344391
ExAC Europe Sub 73216 T=0.59193 C=0.40807
ExAC Asian Sub 25138 T=0.76000 C=0.24000
ExAC American Sub 11510 T=0.66785 C=0.33215
ExAC African Sub 9896 T=0.8505 C=0.1495
ExAC Other Sub 908 T=0.620 C=0.380
8.3KJPN JAPANESE Study-wide 16760 T=0.93914 C=0.06086
1000Genomes Global Study-wide 5008 T=0.7857 C=0.2143
1000Genomes African Sub 1322 T=0.9009 C=0.0991
1000Genomes East Asian Sub 1008 T=0.9236 C=0.0764
1000Genomes Europe Sub 1006 T=0.5954 C=0.4046
1000Genomes South Asian Sub 978 T=0.724 C=0.276
1000Genomes American Sub 694 T=0.729 C=0.271
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.4991 C=0.5009
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.6025 C=0.3975
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.5898 C=0.4102
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.9420 C=0.0580
HapMap Global Study-wide 1886 T=0.7990 C=0.2010
HapMap American Sub 766 T=0.738 C=0.262
HapMap African Sub 692 T=0.844 C=0.156
HapMap Asian Sub 254 T=0.933 C=0.067
HapMap Europe Sub 174 T=0.695 C=0.305
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.592 C=0.408
CNV burdens in cranial meningiomas Global Study-wide 790 T=0.914 C=0.086
CNV burdens in cranial meningiomas CRM Sub 790 T=0.914 C=0.086
Northern Sweden ACPOP Study-wide 600 T=0.495 C=0.505
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.687 C=0.313
PharmGKB Aggregated Global Study-wide 358 T=0.844 C=0.156
PharmGKB Aggregated PA150286672 Sub 358 T=0.844 C=0.156
SGDP_PRJ Global Study-wide 218 T=0.404 C=0.596
Qatari Global Study-wide 216 T=0.690 C=0.310
A Vietnamese Genetic Variation Database Global Study-wide 216 T=0.921 C=0.079
The Danish reference pan genome Danish Study-wide 40 T=0.60 C=0.40
Siberian Global Study-wide 36 T=0.31 C=0.69
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= A C
GRCh38.p13 chr 4 NC_000004.12:g.99339632= NC_000004.12:g.99339632T>A NC_000004.12:g.99339632T>C
GRCh37.p13 chr 4 NC_000004.11:g.100260789= NC_000004.11:g.100260789T>A NC_000004.11:g.100260789T>C
ADH1C RefSeqGene NG_011718.1:g.18129= NG_011718.1:g.18129A>T NG_011718.1:g.18129A>G
ADH1C transcript variant 1 NM_000669.5:c.1048= NM_000669.5:c.1048A>T NM_000669.5:c.1048A>G
ADH1C transcript variant 1 NM_000669.4:c.1048= NM_000669.4:c.1048A>T NM_000669.4:c.1048A>G
ADH1C transcript NM_000669.3:c.1048= NM_000669.3:c.1048A>T NM_000669.3:c.1048A>G
ADH1C transcript variant 2 NR_133005.2:n.1075= NR_133005.2:n.1075A>T NR_133005.2:n.1075A>G
ADH1C transcript variant 2 NR_133005.1:n.1374= NR_133005.1:n.1374A>T NR_133005.1:n.1374A>G
alcohol dehydrogenase 1C NP_000660.1:p.Ile350= NP_000660.1:p.Ile350Phe NP_000660.1:p.Ile350Val
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#.

105 SubSNP, 22 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 LEE ss1510252 Oct 05, 2000 (102)
2 SC_JCM ss2525167 Nov 09, 2000 (108)
3 KIDDLAB ss2978363 Apr 12, 2001 (102)
4 YUSUKE ss3243779 Sep 28, 2001 (102)
5 LEE ss4404155 May 29, 2002 (108)
6 SNP500CANCER ss5586193 Mar 31, 2003 (113)
7 MGC_GENOME_DIFF ss28510055 Sep 24, 2004 (126)
8 EGP_SNPS ss38350655 Mar 11, 2006 (126)
9 ILLUMINA ss74865195 Dec 07, 2007 (129)
10 PHARMGKB_AB_DME ss84160894 Dec 14, 2007 (130)
11 BCMHGSC_JDW ss92703472 Mar 24, 2008 (129)
12 KRIBB_YJKIM ss119336890 Dec 01, 2009 (131)
13 ENSEMBL ss139782443 Dec 01, 2009 (131)
14 ILLUMINA ss154396011 Dec 01, 2009 (131)
15 ILLUMINA ss159571439 Dec 01, 2009 (131)
16 ILLUMINA ss160832829 Dec 01, 2009 (131)
17 ILLUMINA ss174191185 Jul 04, 2010 (132)
18 BCM-HGSC-SUB ss206350387 Jul 04, 2010 (132)
19 1000GENOMES ss221099034 Jul 14, 2010 (132)
20 1000GENOMES ss232515357 Jul 14, 2010 (132)
21 1000GENOMES ss239780258 Jul 15, 2010 (132)
22 ILLUMINA ss244307307 Jul 04, 2010 (132)
23 OMIM-CURATED-RECORDS ss256302208 Aug 26, 2010 (132)
24 GMI ss277844632 May 04, 2012 (137)
25 ILLUMINA ss482428042 Sep 08, 2015 (146)
26 EXOME_CHIP ss491358891 May 04, 2012 (137)
27 TISHKOFF ss557721552 Apr 25, 2013 (138)
28 SSMP ss651526039 Apr 25, 2013 (138)
29 NHLBI-ESP ss712608387 Apr 25, 2013 (138)
30 ILLUMINA ss780831125 Sep 08, 2015 (146)
31 ILLUMINA ss783514083 Sep 08, 2015 (146)
32 ILLUMINA ss833082539 Jul 13, 2019 (153)
33 EVA-GONL ss980450844 Aug 21, 2014 (142)
34 JMKIDD_LAB ss1071787646 Aug 21, 2014 (142)
35 1000GENOMES ss1310982226 Aug 21, 2014 (142)
36 DDI ss1429982929 Apr 01, 2015 (144)
37 EVA_GENOME_DK ss1580687733 Apr 01, 2015 (144)
38 EVA_DECODE ss1589954942 Apr 01, 2015 (144)
39 EVA_UK10K_ALSPAC ss1610737726 Apr 01, 2015 (144)
40 EVA_UK10K_TWINSUK ss1653731759 Apr 01, 2015 (144)
41 EVA_EXAC ss1687584123 Apr 01, 2015 (144)
42 EVA_MGP ss1711067230 Apr 01, 2015 (144)
43 EVA_SVP ss1712693167 Apr 01, 2015 (144)
44 ILLUMINA ss1752489232 Sep 08, 2015 (146)
45 HAMMER_LAB ss1801910337 Sep 08, 2015 (146)
46 ILLUMINA ss1917783149 Feb 12, 2016 (147)
47 WEILL_CORNELL_DGM ss1923690852 Feb 12, 2016 (147)
48 ILLUMINA ss1946123040 Feb 12, 2016 (147)
49 ILLUMINA ss1958706950 Feb 12, 2016 (147)
50 GENOMED ss1969816978 Jul 19, 2016 (147)
51 JJLAB ss2022431410 Sep 14, 2016 (149)
52 USC_VALOUEV ss2150560589 Dec 20, 2016 (150)
53 HUMAN_LONGEVITY ss2265430632 Dec 20, 2016 (150)
54 TOPMED ss2433249159 Dec 20, 2016 (150)
55 SYSTEMSBIOZJU ss2625714599 Nov 08, 2017 (151)
56 ILLUMINA ss2635134997 Nov 08, 2017 (151)
57 GRF ss2706037348 Nov 08, 2017 (151)
58 GNOMAD ss2734649421 Nov 08, 2017 (151)
59 GNOMAD ss2747278753 Nov 08, 2017 (151)
60 GNOMAD ss2812861788 Nov 08, 2017 (151)
61 AFFY ss2985298887 Nov 08, 2017 (151)
62 AFFY ss2985926817 Nov 08, 2017 (151)
63 SWEGEN ss2995211521 Nov 08, 2017 (151)
64 ILLUMINA ss3022398614 Nov 08, 2017 (151)
65 EVA_SAMSUNG_MC ss3023060781 Nov 08, 2017 (151)
66 BIOINF_KMB_FNS_UNIBA ss3024990984 Nov 08, 2017 (151)
67 CSHL ss3345862133 Nov 08, 2017 (151)
68 TOPMED ss3437256896 Nov 08, 2017 (151)
69 TOPMED ss3437256897 Nov 08, 2017 (151)
70 ILLUMINA ss3629025653 Oct 12, 2018 (152)
71 ILLUMINA ss3634963481 Oct 12, 2018 (152)
72 ILLUMINA ss3636667797 Oct 12, 2018 (152)
73 ILLUMINA ss3638501795 Oct 12, 2018 (152)
74 ILLUMINA ss3640670774 Oct 12, 2018 (152)
75 ILLUMINA ss3643451962 Oct 12, 2018 (152)
76 ILLUMINA ss3644855838 Oct 12, 2018 (152)
77 OMUKHERJEE_ADBS ss3646310686 Oct 12, 2018 (152)
78 URBANLAB ss3647802832 Oct 12, 2018 (152)
79 ILLUMINA ss3652884856 Oct 12, 2018 (152)
80 ILLUMINA ss3654070756 Oct 12, 2018 (152)
81 EGCUT_WGS ss3663107512 Jul 13, 2019 (153)
82 EVA_DECODE ss3712658136 Jul 13, 2019 (153)
83 ILLUMINA ss3726155714 Jul 13, 2019 (153)
84 ACPOP ss3731422397 Jul 13, 2019 (153)
85 ILLUMINA ss3744528134 Jul 13, 2019 (153)
86 ILLUMINA ss3745263740 Jul 13, 2019 (153)
87 EVA ss3762167683 Jul 13, 2019 (153)
88 ILLUMINA ss3772758278 Jul 13, 2019 (153)
89 KHV_HUMAN_GENOMES ss3805316140 Jul 13, 2019 (153)
90 EVA ss3824035124 Apr 26, 2020 (154)
91 EVA ss3825522039 Apr 26, 2020 (154)
92 EVA ss3825661674 Apr 26, 2020 (154)
93 EVA ss3828703918 Apr 26, 2020 (154)
94 EVA ss3837793061 Apr 26, 2020 (154)
95 EVA ss3843231458 Apr 26, 2020 (154)
96 SGDP_PRJ ss3859611906 Apr 26, 2020 (154)
97 KRGDB ss3905889286 Apr 26, 2020 (154)
98 FSA-LAB ss3984289995 Apr 26, 2021 (155)
99 FSA-LAB ss3984289996 Apr 26, 2021 (155)
100 EVA ss3984532269 Apr 26, 2021 (155)
101 EVA ss3986028262 Apr 26, 2021 (155)
102 EVA ss3986287310 Apr 26, 2021 (155)
103 TOPMED ss4624663462 Apr 26, 2021 (155)
104 TOMMO_GENOMICS ss5167081075 Apr 26, 2021 (155)
105 EVA ss5237008012 Apr 26, 2021 (155)
106 1000Genomes NC_000004.11 - 100260789 Oct 12, 2018 (152)
107 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 100260789 Oct 12, 2018 (152)
108 Genetic variation in the Estonian population NC_000004.11 - 100260789 Oct 12, 2018 (152)
109 ExAC NC_000004.11 - 100260789 Oct 12, 2018 (152)
110 The Danish reference pan genome NC_000004.11 - 100260789 Apr 26, 2020 (154)
111 gnomAD - Genomes NC_000004.12 - 99339632 Apr 26, 2021 (155)
112 gnomAD - Exomes NC_000004.11 - 100260789 Jul 13, 2019 (153)
113 Genome of the Netherlands Release 5 NC_000004.11 - 100260789 Apr 26, 2020 (154)
114 HapMap NC_000004.12 - 99339632 Apr 26, 2020 (154)
115 KOREAN population from KRGDB NC_000004.11 - 100260789 Apr 26, 2020 (154)
116 Medical Genome Project healthy controls from Spanish population NC_000004.11 - 100260789 Apr 26, 2020 (154)
117 Northern Sweden NC_000004.11 - 100260789 Jul 13, 2019 (153)
118 CNV burdens in cranial meningiomas NC_000004.11 - 100260789 Apr 26, 2021 (155)
119 PharmGKB Aggregated NC_000004.12 - 99339632 Apr 26, 2020 (154)
120 Qatari NC_000004.11 - 100260789 Apr 26, 2020 (154)
121 SGDP_PRJ NC_000004.11 - 100260789 Apr 26, 2020 (154)
122 Siberian NC_000004.11 - 100260789 Apr 26, 2020 (154)
123 8.3KJPN NC_000004.11 - 100260789 Apr 26, 2021 (155)
124 TopMed NC_000004.12 - 99339632 Apr 26, 2021 (155)
125 UK 10K study - Twins NC_000004.11 - 100260789 Oct 12, 2018 (152)
126 A Vietnamese Genetic Variation Database NC_000004.11 - 100260789 Jul 13, 2019 (153)
127 ALFA NC_000004.12 - 99339632 Apr 26, 2021 (155)
128 ClinVar RCV000019811.2 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)
rs1042758 Jan 04, 2002 (102)
rs1693473 Oct 08, 2002 (108)
rs3182222 Jul 03, 2002 (106)
rs4134508 Dec 16, 2002 (110)
rs17399447 Mar 11, 2006 (126)
rs17855753 Mar 11, 2006 (126)
rs56906178 May 23, 2008 (130)
rs117472071 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
8199510074, ss3437256896 NC_000004.12:99339631:T:A NC_000004.12:99339631:T:A (self)
ss3243779, ss119336890 NT_016354.19:24808509:T:A NC_000004.12:99339631:T:A (self)
ss92703472, ss206350387, ss277844632, ss1589954942, ss1712693167, ss2635134997, ss3643451962 NC_000004.10:100479811:T:C NC_000004.12:99339631:T:C (self)
22424500, 12474074, 8845760, 7556224, 6852672, 3757356, 5514314, 13066680, 182990, 4707262, 81629, 5732782, 11628886, 3076943, 25050382, 12474074, 2744635, ss221099034, ss232515357, ss239780258, ss482428042, ss491358891, ss557721552, ss651526039, ss712608387, ss780831125, ss783514083, ss833082539, ss980450844, ss1071787646, ss1310982226, ss1429982929, ss1580687733, ss1610737726, ss1653731759, ss1687584123, ss1711067230, ss1752489232, ss1801910337, ss1917783149, ss1923690852, ss1946123040, ss1958706950, ss1969816978, ss2022431410, ss2150560589, ss2433249159, ss2625714599, ss2706037348, ss2734649421, ss2747278753, ss2812861788, ss2985298887, ss2985926817, ss2995211521, ss3022398614, ss3023060781, ss3345862133, ss3629025653, ss3634963481, ss3636667797, ss3638501795, ss3640670774, ss3644855838, ss3646310686, ss3652884856, ss3654070756, ss3663107512, ss3731422397, ss3744528134, ss3745263740, ss3762167683, ss3772758278, ss3824035124, ss3825522039, ss3825661674, ss3828703918, ss3837793061, ss3859611906, ss3905889286, ss3984289995, ss3984289996, ss3984532269, ss3986028262, ss3986287310, ss5167081075 NC_000004.11:100260788:T:C NC_000004.12:99339631:T:C (self)
RCV000019811.2, 158852854, 2670388, 9679, 288821730, 462041018, 8199510074, ss256302208, ss2265430632, ss3024990984, ss3437256897, ss3647802832, ss3712658136, ss3726155714, ss3805316140, ss3843231458, ss4624663462, ss5237008012 NC_000004.12:99339631:T:C NC_000004.12:99339631:T:C (self)
ss1510252, ss2525167, ss2978363, ss4404155, ss5586193, ss28510055, ss38350655, ss74865195, ss84160894, ss119336890, ss139782443, ss154396011, ss159571439, ss160832829, ss174191185, ss244307307 NT_016354.19:24808509:T:C NC_000004.12:99339631:T:C (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

63 citations for rs698
PMID Title Author Year Journal
3397059 Genotyping of human alcohol dehydrogenases at the ADH2 and ADH3 loci following DNA sequence amplification. Xu YL et al. 1988 Genomics
3758060 The gamma 1 and gamma 2 subunits of human liver alcohol dehydrogenase. cDNA structures, two amino acid replacements, and compatibility with changes in the enzymatic properties. Höög JO et al. 1986 European journal of biochemistry
10090900 Linkage disequilibrium at the ADH2 and ADH3 loci and risk of alcoholism. Osier M et al. 1999 American journal of human 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
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
16018848 Influence of alcohol dehydrogenase 1C polymorphism on the alcohol-cardiovascular disease association (from the Framingham Offspring Study). Djoussé L et al. 2005 The American journal of cardiology
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
17923853 Alcoholism and alcohol drinking habits predicted from alcohol dehydrogenase genes. Tolstrup JS et al. 2008 The pharmacogenomics journal
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
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
19124506 Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer. Mavaddat N et al. 2009 Cancer epidemiology, biomarkers & prevention
19189524 [Distribution of alcohol dehydrogenase (ADH1C) genotypes in subjects with tobacco smoke-associated laryngeal cancer]. Arndt M et al. 2008 Przeglad lekarski
19193628 ADH single nucleotide polymorphism associations with alcohol metabolism in vivo. Birley AJ et al. 2009 Human molecular genetics
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
19447389 Genetic variation of alcohol dehydrogenase type 1C (ADH1C), alcohol consumption, and metabolic cardiovascular risk factors: results from the IMMIDIET study. Latella MC et al. 2009 Atherosclerosis
19526455 ADH1A variation predisposes to personality traits and substance dependence. Zuo L et al. 2010 American journal of medical genetics. Part B, Neuropsychiatric genetics
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
20101753 Variability in ethanol biodisposition in whites is modulated by polymorphisms in the ADH1B and ADH1C genes. Martínez C et al. 2010 Hepatology (Baltimore, Md.)
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
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
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
21303386 Alcohol-metabolizing enzyme gene polymorphisms in the Basque Country, Morocco, and Ecuador. Celorrio D et al. 2011 Alcoholism, clinical and experimental research
21351086 Shortened telomeres in individuals with abuse in alcohol consumption. Pavanello S et al. 2011 International journal of cancer
21437268 A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. McKay JD et al. 2011 PLoS genetics
21606320 Genetic associations with sporadic neuroendocrine tumor risk. Ter-Minassian M et al. 2011 Carcinogenesis
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
21819567 Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins. Abulí A et al. 2011 BMC cancer
21917409 Alcohol drinking, mean corpuscular volume of erythrocytes, and alcohol metabolic genotypes in drunk drivers. Pavanello S et al. 2012 Alcohol (Fayetteville, N.Y.)
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
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
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
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
22476623 Further clarification of the contribution of the ADH1C gene to vulnerability of alcoholism and selected liver diseases. Li D et al. 2012 Human genetics
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.)
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
22675424 ADH1C Ile350Val polymorphism and cancer risk: evidence from 35 case-control studies. Xue Y et al. 2012 PloS one
22806211 The genetics of addiction-a translational perspective. Agrawal A et al. 2012 Translational psychiatry
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
22978509 Convergence of genome-wide association and candidate gene studies for alcoholism. Olfson E et al. 2012 Alcoholism, clinical and experimental research
23404349 Childhood acute leukemia, maternal beverage intake during pregnancy, and metabolic polymorphisms. Bonaventure A et al. 2013 Cancer causes & control
23720673 Molecular epidemiology of DNA repair gene polymorphisms and head and neck cancer. Wang M et al. 2013 Journal of biomedical research
23895337 Alcohol-metabolizing genes and alcohol phenotypes in an Israeli household sample. Meyers JL et al. 2013 Alcoholism, clinical and experimental research
24114820 Genetic factors affecting susceptibility to alcoholic liver disease in an Indian population. Dutta AK et al. 2013 Annals of hepatology
24633362 ALDH2 and ADH1 genetic polymorphisms may contribute to the risk of gastric cancer: a meta-analysis. Wang HL et al. 2014 PloS one
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
25266489 Genetic polymorphisms of VIP variants in the Tajik ethnic group of northwest China. Zhang J et al. 2014 BMC genetics
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
26091847 Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China. Wang L et al. 2015 BMC genetics
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
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
27233804 Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China. Jin T et al. 2016 BMC genetics
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
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
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
29992684 A systematic review: Candidate gene and environment interaction on alcohol use and misuse among adolescents and young adults. Kim J et al. 2018 The American journal on addictions
30842089 Alcohol-metabolizing Enzymes' Gene Polymorphisms and Susceptibility to Multiple Head and Neck Cancers. Chien HT et al. 2019 Cancer prevention research (Philadelphia, Pa.)
32093702 Discovering weaker genetic associations guided by known associations. Wang H et al. 2020 BMC medical genomics
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