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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.

rs2076310

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr6:33198257 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.293422 (77666/264690, TOPMED)
G=0.248138 (65620/264450, ALFA)
G=0.274741 (67006/243888, GnomAD_exome) (+ 20 more)
G=0.284264 (39801/140014, GnomAD)
G=0.277104 (32102/115848, ExAC)
A=0.33371 (5593/16760, 8.3KJPN)
G=0.2762 (2328/8428, GO-ESP)
G=0.3766 (1886/5008, 1000G)
G=0.1900 (851/4480, Estonian)
G=0.2566 (989/3854, ALSPAC)
G=0.2335 (866/3708, TWINSUK)
A=0.4270 (1251/2930, KOREAN)
G=0.3953 (748/1892, HapMap)
G=0.230 (230/998, GoNL)
A=0.391 (239/611, Vietnamese)
G=0.188 (113/600, NorthernSweden)
G=0.279 (149/534, MGP)
G=0.263 (80/304, FINRISK)
A=0.340 (100/294, SGDP_PRJ)
G=0.319 (69/216, Qatari)
G=0.21 (16/78, Ancient Sardinia)
G=0.23 (9/40, GENOME_DK)
A=0.38 (9/24, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RXRB : Intron Variant
Publications
6 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 6 NC_000006.12:g.33198257A>G
GRCh37.p13 chr 6 NC_000006.11:g.33166034A>G
RXRB RefSeqGene NG_023374.1:g.7399T>C
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.4609764G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.4609870G>A
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.4392661A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.4398257A>G
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.4617730A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.4623350A>G
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.4441756A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.4447341A>G
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.4634211A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.4639796A>G
Gene: RXRB, retinoid X receptor beta (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RXRB transcript variant 1 NM_001270401.2:c.640+51T>C N/A Intron Variant
RXRB transcript variant 3 NM_001291989.2:c.70+51T>C N/A Intron Variant
RXRB transcript variant 2 NM_021976.5:c.640+51T>C N/A Intron Variant
RXRB transcript variant X1 XM_005249278.3:c.352+51T>C N/A Intron Variant
RXRB transcript variant X2 XM_011514796.3:c.289+51T>C N/A Intron Variant
RXRB transcript variant X3 XM_017011176.1:c.271+51T>C N/A Intron 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.

Not Reported in ClinVar

ALFA Allele Frequency (New)
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 264450 A=0.751862 G=0.248138
European Sub 229526 A=0.767691 G=0.232309
African Sub 6554 A=0.6402 G=0.3598
African Others Sub 248 A=0.573 G=0.427
African American Sub 6306 A=0.6429 G=0.3571
Asian Sub 6672 A=0.3924 G=0.6076
East Asian Sub 4808 A=0.3862 G=0.6138
Other Asian Sub 1864 A=0.4083 G=0.5917
Latin American 1 Sub 662 A=0.705 G=0.295
Latin American 2 Sub 5894 A=0.7930 G=0.2070
South Asian Sub 346 A=0.705 G=0.295
Other Sub 14796 A=0.70465 G=0.29535


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 A=0.706578 G=0.293422
gnomAD - Exomes Global Study-wide 243888 A=0.725259 G=0.274741
gnomAD - Exomes European Sub 129740 A=0.762055 G=0.237945
gnomAD - Exomes Asian Sub 48648 A=0.57472 G=0.42528
gnomAD - Exomes American Sub 34470 A=0.80914 G=0.19086
gnomAD - Exomes African Sub 15020 A=0.63455 G=0.36545
gnomAD - Exomes Ashkenazi Jewish Sub 9948 A=0.8201 G=0.1799
gnomAD - Exomes Other Sub 6062 A=0.7380 G=0.2620
gnomAD - Genomes Global Study-wide 140014 A=0.715736 G=0.284264
gnomAD - Genomes European Sub 75850 A=0.76009 G=0.23991
gnomAD - Genomes African Sub 41932 A=0.63684 G=0.36316
gnomAD - Genomes American Sub 13638 A=0.77020 G=0.22980
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.8302 G=0.1698
gnomAD - Genomes East Asian Sub 3122 A=0.3530 G=0.6470
gnomAD - Genomes Other Sub 2150 A=0.6940 G=0.3060
ExAC Global Study-wide 115848 A=0.722896 G=0.277104
ExAC Europe Sub 69670 A=0.76788 G=0.23212
ExAC Asian Sub 24752 A=0.58698 G=0.41302
ExAC American Sub 11458 A=0.81079 G=0.18921
ExAC African Sub 9100 A=0.6371 G=0.3629
ExAC Other Sub 868 A=0.727 G=0.273
8.3KJPN JAPANESE Study-wide 16760 A=0.33371 G=0.66629
GO Exome Sequencing Project Global Study-wide 8428 A=0.7238 G=0.2762
GO Exome Sequencing Project European American Sub 5414 A=0.7610 G=0.2390
GO Exome Sequencing Project African American Sub 3014 A=0.6569 G=0.3431
1000Genomes Global Study-wide 5008 A=0.6234 G=0.3766
1000Genomes African Sub 1322 A=0.6067 G=0.3933
1000Genomes East Asian Sub 1008 A=0.3958 G=0.6042
1000Genomes Europe Sub 1006 A=0.7286 G=0.2714
1000Genomes South Asian Sub 978 A=0.660 G=0.340
1000Genomes American Sub 694 A=0.782 G=0.218
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.8100 G=0.1900
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.7434 G=0.2566
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.7665 G=0.2335
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.4270 G=0.5730
HapMap Global Study-wide 1892 A=0.6047 G=0.3953
HapMap American Sub 770 A=0.630 G=0.370
HapMap African Sub 692 A=0.623 G=0.377
HapMap Asian Sub 254 A=0.382 G=0.618
HapMap Europe Sub 176 A=0.744 G=0.256
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.770 G=0.230
A Vietnamese Genetic Variation Database Global Study-wide 611 A=0.391 G=0.609
Northern Sweden ACPOP Study-wide 600 A=0.812 G=0.188
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.721 G=0.279
FINRISK Finnish from FINRISK project Study-wide 304 A=0.737 G=0.263
SGDP_PRJ Global Study-wide 294 A=0.340 G=0.660
Qatari Global Study-wide 216 A=0.681 G=0.319
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 78 A=0.79 G=0.21
The Danish reference pan genome Danish Study-wide 40 A=0.78 G=0.23
Siberian Global Study-wide 24 A=0.38 G=0.62
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 A= G
GRCh38.p13 chr 6 NC_000006.12:g.33198257= NC_000006.12:g.33198257A>G
GRCh37.p13 chr 6 NC_000006.11:g.33166034= NC_000006.11:g.33166034A>G
RXRB RefSeqGene NG_023374.1:g.7399= NG_023374.1:g.7399T>C
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.4609764G>A NT_113891.3:g.4609764=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.4609870G>A NT_113891.2:g.4609870=
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.4392661= NT_167248.2:g.4392661A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.4398257= NT_167248.1:g.4398257A>G
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.4617730= NT_167246.2:g.4617730A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.4623350= NT_167246.1:g.4623350A>G
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.4441756= NT_167245.2:g.4441756A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.4447341= NT_167245.1:g.4447341A>G
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.4634211= NT_167247.2:g.4634211A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.4639796= NT_167247.1:g.4639796A>G
RXRB transcript variant 1 NM_001270401.1:c.640+51= NM_001270401.1:c.640+51T>C
RXRB transcript variant 1 NM_001270401.2:c.640+51= NM_001270401.2:c.640+51T>C
RXRB transcript variant 3 NM_001291989.2:c.70+51= NM_001291989.2:c.70+51T>C
RXRB transcript variant 2 NM_021976.4:c.640+51= NM_021976.4:c.640+51T>C
RXRB transcript variant 2 NM_021976.5:c.640+51= NM_021976.5:c.640+51T>C
RXRB transcript variant X5 XM_005249278.1:c.352+51= XM_005249278.1:c.352+51T>C
RXRB transcript variant X1 XM_005249278.3:c.352+51= XM_005249278.3:c.352+51T>C
RXRB transcript variant X8 XM_005249279.1:c.352+51= XM_005249279.1:c.352+51T>C
RXRB transcript variant X3 XM_005249280.1:c.70+51= XM_005249280.1:c.70+51T>C
RXRB transcript variant X5 XM_005272854.1:c.352+51C>T XM_005272854.1:c.352+51=
RXRB transcript variant X8 XM_005272855.1:c.352+51C>T XM_005272855.1:c.352+51=
RXRB transcript variant X3 XM_005272856.1:c.70+51C>T XM_005272856.1:c.70+51=
RXRB transcript variant X5 XM_005275007.1:c.352+51= XM_005275007.1:c.352+51T>C
RXRB transcript variant X8 XM_005275008.1:c.352+51= XM_005275008.1:c.352+51T>C
RXRB transcript variant X3 XM_005275009.1:c.70+51= XM_005275009.1:c.70+51T>C
RXRB transcript variant X5 XM_005275149.1:c.352+51= XM_005275149.1:c.352+51T>C
RXRB transcript variant X8 XM_005275150.1:c.352+51= XM_005275150.1:c.352+51T>C
RXRB transcript variant X3 XM_005275151.1:c.70+51= XM_005275151.1:c.70+51T>C
RXRB transcript variant X5 XM_005275276.1:c.352+51= XM_005275276.1:c.352+51T>C
RXRB transcript variant X8 XM_005275277.1:c.352+51= XM_005275277.1:c.352+51T>C
RXRB transcript variant X3 XM_005275278.1:c.70+51= XM_005275278.1:c.70+51T>C
RXRB transcript variant X5 XM_005275438.1:c.352+51= XM_005275438.1:c.352+51T>C
RXRB transcript variant X8 XM_005275439.1:c.352+51= XM_005275439.1:c.352+51T>C
RXRB transcript variant X3 XM_005275440.1:c.70+51= XM_005275440.1:c.70+51T>C
RXRB transcript variant X2 XM_011514796.3:c.289+51= XM_011514796.3:c.289+51T>C
RXRB transcript variant X3 XM_017011176.1:c.271+51= XM_017011176.1:c.271+51T>C
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#.

143 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss2991685 Jun 15, 2001 (96)
2 HGBASE ss3185073 Aug 15, 2001 (98)
3 SC_JCM ss4359826 Mar 26, 2002 (103)
4 SNP500CANCER ss8819848 Jul 02, 2003 (116)
5 BCM_SSAHASNP ss10326200 Jul 11, 2003 (117)
6 SI_MHC_SNP ss12703971 Oct 31, 2003 (118)
7 SC_SNP ss15737423 Feb 27, 2004 (120)
8 PERLEGEN ss23719389 Sep 20, 2004 (123)
9 IMCJ-GDT ss28502234 Sep 24, 2004 (126)
10 ILLUMINA ss65758372 Oct 14, 2006 (127)
11 KRIBB_YJKIM ss65843870 Nov 29, 2006 (127)
12 PERLEGEN ss68972673 May 16, 2007 (127)
13 ILLUMINA ss74865329 Dec 07, 2007 (129)
14 CGM_KYOTO ss76865702 Dec 07, 2007 (129)
15 BCMHGSC_JDW ss93440311 Mar 24, 2008 (129)
16 CNG ss95211481 Mar 25, 2008 (129)
17 1000GENOMES ss109931596 Feb 13, 2009 (130)
18 ILLUMINA-UK ss116410866 Feb 14, 2009 (130)
19 KRIBB_YJKIM ss119416000 Dec 01, 2009 (131)
20 ILLUMINA ss152536392 Dec 01, 2009 (131)
21 GMI ss156783666 Dec 01, 2009 (131)
22 ILLUMINA ss159102632 Dec 01, 2009 (131)
23 ILLUMINA ss160499449 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss166478957 Jul 04, 2010 (132)
25 ILLUMINA ss168870898 Jul 04, 2010 (132)
26 ILLUMINA ss173103364 Jul 04, 2010 (132)
27 BUSHMAN ss201662736 Jul 04, 2010 (132)
28 1000GENOMES ss211821594 Jul 14, 2010 (132)
29 1000GENOMES ss222323877 Jul 14, 2010 (132)
30 1000GENOMES ss233421496 Jul 14, 2010 (132)
31 1000GENOMES ss240487661 Jul 15, 2010 (132)
32 BL ss254224974 May 09, 2011 (137)
33 GMI ss278746415 May 04, 2012 (137)
34 ILLUMINA ss410919160 Sep 17, 2011 (137)
35 ILLUMINA ss480415349 May 04, 2012 (137)
36 ILLUMINA ss480428803 May 04, 2012 (137)
37 ILLUMINA ss481212441 Sep 08, 2015 (146)
38 ILLUMINA ss485005194 May 04, 2012 (137)
39 EXOME_CHIP ss491384231 May 04, 2012 (137)
40 CLINSEQ_SNP ss491887583 May 04, 2012 (137)
41 ILLUMINA ss537035721 Sep 08, 2015 (146)
42 TISHKOFF ss559125499 Apr 25, 2013 (138)
43 SSMP ss653059068 Apr 25, 2013 (138)
44 NHLBI-ESP ss712702890 Apr 25, 2013 (138)
45 ILLUMINA ss778480139 Sep 08, 2015 (146)
46 ILLUMINA ss780682912 Sep 08, 2015 (146)
47 ILLUMINA ss782948916 Sep 08, 2015 (146)
48 ILLUMINA ss783356286 Sep 08, 2015 (146)
49 ILLUMINA ss783911232 Sep 08, 2015 (146)
50 ILLUMINA ss832204803 Sep 08, 2015 (146)
51 ILLUMINA ss832615428 Jul 13, 2019 (153)
52 ILLUMINA ss833936007 Sep 08, 2015 (146)
53 JMKIDD_LAB ss974459942 Aug 21, 2014 (142)
54 EVA-GONL ss982794350 Aug 21, 2014 (142)
55 JMKIDD_LAB ss1067478112 Aug 21, 2014 (142)
56 JMKIDD_LAB ss1073517952 Aug 21, 2014 (142)
57 1000GENOMES ss1319615387 Aug 21, 2014 (142)
58 EVA_GENOME_DK ss1581619672 Apr 01, 2015 (144)
59 EVA_FINRISK ss1584045909 Apr 01, 2015 (144)
60 EVA_DECODE ss1592327188 Apr 01, 2015 (144)
61 EVA_UK10K_ALSPAC ss1615301962 Apr 01, 2015 (144)
62 EVA_UK10K_TWINSUK ss1658295995 Apr 01, 2015 (144)
63 EVA_EXAC ss1688266025 Apr 01, 2015 (144)
64 EVA_MGP ss1711125295 Apr 01, 2015 (144)
65 EVA_SVP ss1712853608 Apr 01, 2015 (144)
66 ILLUMINA ss1752632602 Sep 08, 2015 (146)
67 ILLUMINA ss1752632603 Sep 08, 2015 (146)
68 HAMMER_LAB ss1804371600 Sep 08, 2015 (146)
69 ILLUMINA ss1917804073 Feb 12, 2016 (147)
70 WEILL_CORNELL_DGM ss1926052414 Feb 12, 2016 (147)
71 ILLUMINA ss1946175468 Feb 12, 2016 (147)
72 ILLUMINA ss1946175469 Feb 12, 2016 (147)
73 ILLUMINA ss1958897784 Feb 12, 2016 (147)
74 GENOMED ss1970367355 Jul 19, 2016 (147)
75 JJLAB ss2023663094 Sep 14, 2016 (149)
76 ILLUMINA ss2094827312 Dec 20, 2016 (150)
77 ILLUMINA ss2095181294 Dec 20, 2016 (150)
78 USC_VALOUEV ss2151839006 Dec 20, 2016 (150)
79 HUMAN_LONGEVITY ss2283020282 Dec 20, 2016 (150)
80 TOPMED ss2451403132 Dec 20, 2016 (150)
81 SYSTEMSBIOZJU ss2626319901 Nov 08, 2017 (151)
82 ILLUMINA ss2634436329 Nov 08, 2017 (151)
83 ILLUMINA ss2635156022 Nov 08, 2017 (151)
84 GRF ss2707434139 Nov 08, 2017 (151)
85 ILLUMINA ss2711073469 Nov 08, 2017 (151)
86 GNOMAD ss2735703664 Nov 08, 2017 (151)
87 GNOMAD ss2747598564 Nov 08, 2017 (151)
88 AFFY ss2985364533 Nov 08, 2017 (151)
89 AFFY ss2985997191 Nov 08, 2017 (151)
90 SWEGEN ss2998852604 Nov 08, 2017 (151)
91 ILLUMINA ss3022608642 Nov 08, 2017 (151)
92 ILLUMINA ss3022608643 Nov 08, 2017 (151)
93 BIOINF_KMB_FNS_UNIBA ss3025623643 Nov 08, 2017 (151)
94 TOPMED ss3494136831 Nov 08, 2017 (151)
95 ILLUMINA ss3625899073 Oct 12, 2018 (152)
96 ILLUMINA ss3629516864 Oct 12, 2018 (152)
97 ILLUMINA ss3629516865 Oct 12, 2018 (152)
98 ILLUMINA ss3632354042 Oct 12, 2018 (152)
99 ILLUMINA ss3633417543 Oct 12, 2018 (152)
100 ILLUMINA ss3634140184 Oct 12, 2018 (152)
101 ILLUMINA ss3635060927 Oct 12, 2018 (152)
102 ILLUMINA ss3635060928 Oct 12, 2018 (152)
103 ILLUMINA ss3635821103 Oct 12, 2018 (152)
104 ILLUMINA ss3636783727 Oct 12, 2018 (152)
105 ILLUMINA ss3637573904 Oct 12, 2018 (152)
106 ILLUMINA ss3638622960 Oct 12, 2018 (152)
107 ILLUMINA ss3638622961 Oct 12, 2018 (152)
108 ILLUMINA ss3640768226 Oct 12, 2018 (152)
109 ILLUMINA ss3640768227 Oct 12, 2018 (152)
110 ILLUMINA ss3641193610 Oct 12, 2018 (152)
111 ILLUMINA ss3641490751 Oct 12, 2018 (152)
112 ILLUMINA ss3643564525 Oct 12, 2018 (152)
113 ILLUMINA ss3644908511 Oct 12, 2018 (152)
114 ILLUMINA ss3644908512 Oct 12, 2018 (152)
115 OMUKHERJEE_ADBS ss3646337212 Oct 12, 2018 (152)
116 ILLUMINA ss3653123125 Oct 12, 2018 (152)
117 ILLUMINA ss3653123126 Oct 12, 2018 (152)
118 ILLUMINA ss3654130278 Oct 12, 2018 (152)
119 EGCUT_WGS ss3666739735 Jul 13, 2019 (153)
120 EVA_DECODE ss3716951975 Jul 13, 2019 (153)
121 ILLUMINA ss3726335915 Jul 13, 2019 (153)
122 ACPOP ss3733389728 Jul 13, 2019 (153)
123 ILLUMINA ss3744269686 Jul 13, 2019 (153)
124 ILLUMINA ss3744552564 Jul 13, 2019 (153)
125 ILLUMINA ss3745360866 Jul 13, 2019 (153)
126 ILLUMINA ss3745360867 Jul 13, 2019 (153)
127 EVA ss3764855825 Jul 13, 2019 (153)
128 ILLUMINA ss3772854521 Jul 13, 2019 (153)
129 ILLUMINA ss3772854522 Jul 13, 2019 (153)
130 KHV_HUMAN_GENOMES ss3808012350 Jul 13, 2019 (153)
131 EVA ss3824176424 Apr 26, 2020 (154)
132 EVA ss3825696219 Apr 26, 2020 (154)
133 EVA ss3829856753 Apr 26, 2020 (154)
134 SGDP_PRJ ss3864315525 Apr 26, 2020 (154)
135 KRGDB ss3911093142 Apr 26, 2020 (154)
136 EVA ss3985215596 Apr 26, 2021 (155)
137 EVA ss4017268742 Apr 26, 2021 (155)
138 VINODS ss4025217036 Apr 26, 2021 (155)
139 VINODS ss4025238417 Apr 26, 2021 (155)
140 VINODS ss4025254258 Apr 26, 2021 (155)
141 VINODS ss4025275987 Apr 26, 2021 (155)
142 TOPMED ss4698689018 Apr 26, 2021 (155)
143 TOMMO_GENOMICS ss5176930909 Apr 26, 2021 (155)
144 1000Genomes NC_000006.11 - 33166034 Oct 12, 2018 (152)
145 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 33166034 Oct 12, 2018 (152)
146 Genetic variation in the Estonian population NC_000006.11 - 33166034 Oct 12, 2018 (152)
147 ExAC NC_000006.11 - 33166034 Oct 12, 2018 (152)
148 FINRISK NC_000006.11 - 33166034 Apr 26, 2020 (154)
149 The Danish reference pan genome NC_000006.11 - 33166034 Apr 26, 2020 (154)
150 gnomAD - Genomes NC_000006.12 - 33198257 Apr 26, 2021 (155)
151 gnomAD - Exomes NC_000006.11 - 33166034 Jul 13, 2019 (153)
152 GO Exome Sequencing Project NC_000006.11 - 33166034 Oct 12, 2018 (152)
153 Genome of the Netherlands Release 5 NC_000006.11 - 33166034 Apr 26, 2020 (154)
154 HapMap NC_000006.12 - 33198257 Apr 26, 2020 (154)
155 KOREAN population from KRGDB NC_000006.11 - 33166034 Apr 26, 2020 (154)
156 Medical Genome Project healthy controls from Spanish population NC_000006.11 - 33166034 Apr 26, 2020 (154)
157 Northern Sweden NC_000006.11 - 33166034 Jul 13, 2019 (153)
158 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000006.11 - 33166034 Apr 26, 2021 (155)
159 Qatari NC_000006.11 - 33166034 Apr 26, 2020 (154)
160 SGDP_PRJ NC_000006.11 - 33166034 Apr 26, 2020 (154)
161 Siberian NC_000006.11 - 33166034 Apr 26, 2020 (154)
162 8.3KJPN NC_000006.11 - 33166034 Apr 26, 2021 (155)
163 TopMed NC_000006.12 - 33198257 Apr 26, 2021 (155)
164 UK 10K study - Twins NC_000006.11 - 33166034 Oct 12, 2018 (152)
165 A Vietnamese Genetic Variation Database NC_000006.11 - 33166034 Jul 13, 2019 (153)
166 ALFA NC_000006.12 - 33198257 Apr 26, 2021 (155)
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)
rs6929767 Aug 27, 2003 (117)
rs17847932 Mar 10, 2006 (126)
rs116710016 Oct 26, 2010 (133)
rs117978059 Aug 16, 2010 (132)
rs145189016 May 04, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss12703971, ss93440311, ss109931596, ss116410866, ss166478957, ss201662736, ss211821594, ss254224974, ss278746415, ss480415349, ss491887583, ss1592327188, ss1712853608, ss2635156022, ss3643564525 NC_000006.10:33274011:A:G NC_000006.12:33198256:A:G (self)
31385023, 17494601, 12477983, 8294262, 42370, 7784611, 4845298, 634451, 7788531, 18270536, 241055, 6674593, 441523, 8094344, 16332505, 4355360, 34900216, 17494601, 3884747, ss222323877, ss233421496, ss240487661, ss480428803, ss481212441, ss485005194, ss491384231, ss537035721, ss559125499, ss653059068, ss712702890, ss778480139, ss780682912, ss782948916, ss783356286, ss783911232, ss832204803, ss832615428, ss833936007, ss974459942, ss982794350, ss1067478112, ss1073517952, ss1319615387, ss1581619672, ss1584045909, ss1615301962, ss1658295995, ss1688266025, ss1711125295, ss1752632602, ss1752632603, ss1804371600, ss1917804073, ss1926052414, ss1946175468, ss1946175469, ss1958897784, ss1970367355, ss2023663094, ss2094827312, ss2095181294, ss2151839006, ss2451403132, ss2626319901, ss2634436329, ss2707434139, ss2711073469, ss2735703664, ss2747598564, ss2985364533, ss2985997191, ss2998852604, ss3022608642, ss3022608643, ss3625899073, ss3629516864, ss3629516865, ss3632354042, ss3633417543, ss3634140184, ss3635060927, ss3635060928, ss3635821103, ss3636783727, ss3637573904, ss3638622960, ss3638622961, ss3640768226, ss3640768227, ss3641193610, ss3641490751, ss3644908511, ss3644908512, ss3646337212, ss3653123125, ss3653123126, ss3654130278, ss3666739735, ss3733389728, ss3744269686, ss3744552564, ss3745360866, ss3745360867, ss3764855825, ss3772854521, ss3772854522, ss3824176424, ss3825696219, ss3829856753, ss3864315525, ss3911093142, ss3985215596, ss4017268742, ss5176930909 NC_000006.11:33166033:A:G NC_000006.12:33198256:A:G (self)
221527167, 3105172, 335229791, 536066576, 11110885390, ss2283020282, ss3025623643, ss3494136831, ss3716951975, ss3726335915, ss3808012350, ss4698689018 NC_000006.12:33198256:A:G NC_000006.12:33198256:A:G (self)
ss10326200, ss15737423 NT_007592.13:23963192:A:G NC_000006.12:33198256:A:G (self)
ss2991685, ss3185073, ss4359826, ss8819848, ss23719389, ss28502234, ss65758372, ss65843870, ss68972673, ss74865329, ss76865702, ss95211481, ss119416000, ss152536392, ss156783666, ss159102632, ss160499449, ss168870898, ss173103364, ss410919160 NT_007592.15:33106033:A:G NC_000006.12:33198256:A:G (self)
ss4025217036 NT_167245.2:4441755:A:G NC_000006.12:33198256:A:G
ss4025238417 NT_167246.2:4617729:A:G NC_000006.12:33198256:A:G
ss4025254258 NT_167247.2:4634210:A:G NC_000006.12:33198256:A:G
ss4025275987 NT_167248.2:4392660:A:G NC_000006.12:33198256:A:G
Help

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

6 citations for rs2076310
PMID Title Author Year Journal
18375961 Polymorphism of genes related to insulin sensitivity and the risk of biliary tract cancer and biliary stone: a population-based case-control study in Shanghai, China. Chang SC et al. 2008 Carcinogenesis
19935834 Genome scan for loci regulating HDL cholesterol levels in Finnish extended pedigrees with early coronary heart disease. Kangas-Kontio T et al. 2010 European journal of human genetics
20587610 Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. Ucisik-Akkaya E et al. 2010 Molecular human reproduction
21708280 Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis. Srivastava K et al. 2011 Mutation research
28652652 Gallbladder cancer epidemiology, pathogenesis and molecular genetics: Recent update. Sharma A et al. 2017 World journal of gastroenterology
33246082 Genetic variant of RXR involved in the vitamin D metabolic pathway was linked to HCV infection outcomes among a high-risk Chinese population. Zhang R et al. 2021 Infection, genetics and evolution
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