Name: rs3762894
Published: September 21, 2022
License: Open Access

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.

rs3762894

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:99144933 (GRCh38.p14) 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 / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.193717 (51275/264690, TOPMED)
C=0.165758 (36740/221648, ALFA)
C=0.182838 (25624/140146, GnomAD) (+ 22 more)
C=0.25673 (20203/78694, PAGE_STUDY)
T=0.26633 (7526/28258, 14KJPN)
T=0.26372 (4420/16760, 8.3KJPN)
C=0.3047 (1951/6404, 1000G_30x)
C=0.3187 (1596/5008, 1000G)
C=0.1482 (664/4480, Estonian)
C=0.1718 (662/3854, ALSPAC)
C=0.1599 (593/3708, TWINSUK)
T=0.3075 (901/2930, KOREAN)
C=0.2767 (576/2082, HGDP_Stanford)
C=0.3272 (619/1892, HapMap)
T=0.2942 (539/1832, Korea1K)
C=0.2210 (251/1136, Daghestan)
C=0.162 (162/998, GoNL)
C=0.128 (77/600, NorthernSweden)
T=0.366 (90/246, SGDP_PRJ)
C=0.181 (39/216, Qatari)
T=0.206 (44/214, Vietnamese)
C=0.00 (0/42, Ancient Sardinia)
C=0.15 (6/40, GENOME_DK)
T=0.50 (9/18, Siberian)
C=0.50 (9/18, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ADH4 : 2KB Upstream Variant
LOC100507053 : Intron Variant
Publications: 11 citations
Genomic View: See rs on genome

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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	221742	T=0.834240	C=0.165760, G=0.000000	0.698866	0.030387	0.270747	26
European	Sub	191976	T=0.838209	C=0.161791, G=0.000000	0.703109	0.026691	0.2702	1
African	Sub	9294	T=0.8171	C=0.1829, G=0.0000	0.675274	0.041102	0.283624	7
African Others	Sub	314	T=0.831	C=0.169, G=0.000	0.700637	0.038217	0.261146	0
African American	Sub	8980	T=0.8166	C=0.1834, G=0.0000	0.674388	0.041203	0.28441	7
Asian	Sub	676	T=0.262	C=0.738, G=0.000	0.079882	0.556213	0.363905	1
East Asian	Sub	552	T=0.254	C=0.746, G=0.000	0.072464	0.565217	0.362319	0
Other Asian	Sub	124	T=0.298	C=0.702, G=0.000	0.112903	0.516129	0.370968	0
Latin American 1	Sub	796	T=0.833	C=0.167, G=0.000	0.703518	0.037688	0.258794	1
Latin American 2	Sub	6750	T=0.9087	C=0.0913, G=0.0000	0.82963	0.012148	0.158222	4
South Asian	Sub	4990	T=0.7138	C=0.2862, G=0.0000	0.515431	0.087776	0.396794	1
Other	Sub	7260	T=0.8182	C=0.1818, G=0.0000	0.678512	0.042149	0.279339	8

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	T=0.806283	C=0.193717
Allele Frequency Aggregator	Total	Global	221648	T=0.834242	C=0.165758, G=0.000000
Allele Frequency Aggregator	European	Sub	191900	T=0.838202	C=0.161798, G=0.000000
Allele Frequency Aggregator	African	Sub	9294	T=0.8171	C=0.1829, G=0.0000
Allele Frequency Aggregator	Other	Sub	7242	T=0.8184	C=0.1816, G=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	6750	T=0.9087	C=0.0913, G=0.0000
Allele Frequency Aggregator	South Asian	Sub	4990	T=0.7138	C=0.2862, G=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	796	T=0.833	C=0.167, G=0.000
Allele Frequency Aggregator	Asian	Sub	676	T=0.262	C=0.738, G=0.000
gnomAD - Genomes	Global	Study-wide	140146	T=0.817162	C=0.182838
gnomAD - Genomes	European	Sub	75914	T=0.84428	C=0.15572
gnomAD - Genomes	African	Sub	41992	T=0.79639	C=0.20361
gnomAD - Genomes	American	Sub	13648	T=0.86284	C=0.13716
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	T=0.8133	C=0.1867
gnomAD - Genomes	East Asian	Sub	3118	T=0.2543	C=0.7457
gnomAD - Genomes	Other	Sub	2154	T=0.7976	C=0.2024
The PAGE Study	Global	Study-wide	78694	T=0.74327	C=0.25673
The PAGE Study	AfricanAmerican	Sub	32508	T=0.79470	C=0.20530
The PAGE Study	Mexican	Sub	10810	T=0.89880	C=0.10120
The PAGE Study	Asian	Sub	8318	T=0.2651	C=0.7349
The PAGE Study	PuertoRican	Sub	7918	T=0.8314	C=0.1686
The PAGE Study	NativeHawaiian	Sub	4534	T=0.4369	C=0.5631
The PAGE Study	Cuban	Sub	4230	T=0.8161	C=0.1839
The PAGE Study	Dominican	Sub	3828	T=0.8218	C=0.1782
The PAGE Study	CentralAmerican	Sub	2450	T=0.8898	C=0.1102
The PAGE Study	SouthAmerican	Sub	1982	T=0.8890	C=0.1110
The PAGE Study	NativeAmerican	Sub	1260	T=0.8508	C=0.1492
The PAGE Study	SouthAsian	Sub	856	T=0.654	C=0.346
14KJPN	JAPANESE	Study-wide	28258	T=0.26633	C=0.73367
8.3KJPN	JAPANESE	Study-wide	16760	T=0.26372	C=0.73628
1000Genomes_30x	Global	Study-wide	6404	T=0.6953	C=0.3047
1000Genomes_30x	African	Sub	1786	T=0.7626	C=0.2374
1000Genomes_30x	Europe	Sub	1266	T=0.8476	C=0.1524
1000Genomes_30x	South Asian	Sub	1202	T=0.6830	C=0.3170
1000Genomes_30x	East Asian	Sub	1170	T=0.2675	C=0.7325
1000Genomes_30x	American	Sub	980	T=0.902	C=0.098
1000Genomes	Global	Study-wide	5008	T=0.6813	C=0.3187
1000Genomes	African	Sub	1322	T=0.7678	C=0.2322
1000Genomes	East Asian	Sub	1008	T=0.2649	C=0.7351
1000Genomes	Europe	Sub	1006	T=0.8429	C=0.1571
1000Genomes	South Asian	Sub	978	T=0.677	C=0.323
1000Genomes	American	Sub	694	T=0.893	C=0.107
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.8518	C=0.1482
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.8282	C=0.1718
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.8401	C=0.1599
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.3075	A=0.0000, C=0.6925
HGDP-CEPH-db Supplement 1	Global	Study-wide	2082	T=0.7233	C=0.2767
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	468	T=0.410	C=0.590
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.768	C=0.232
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.794	C=0.206
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.828	C=0.172
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.727	C=0.273
HGDP-CEPH-db Supplement 1	America	Sub	216	T=1.000	C=0.000
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.85	C=0.15
HapMap	Global	Study-wide	1892	T=0.6728	C=0.3272
HapMap	American	Sub	770	T=0.681	C=0.319
HapMap	African	Sub	692	T=0.766	C=0.234
HapMap	Asian	Sub	254	T=0.303	C=0.697
HapMap	Europe	Sub	176	T=0.807	C=0.193
Korean Genome Project	KOREAN	Study-wide	1832	T=0.2942	C=0.7058
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	T=0.7790	C=0.2210
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	T=0.780	C=0.220
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=0.792	C=0.208
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.697	C=0.303
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.880	C=0.120
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	T=0.76	C=0.24
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.75	C=0.25
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.838	C=0.162
Northern Sweden	ACPOP	Study-wide	600	T=0.872	C=0.128
SGDP_PRJ	Global	Study-wide	246	T=0.366	C=0.634
Qatari	Global	Study-wide	216	T=0.819	C=0.181
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.206	C=0.794
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	42	T=1.00	C=0.00
The Danish reference pan genome	Danish	Study-wide	40	T=0.85	C=0.15
Siberian	Global	Study-wide	18	T=0.50	C=0.50

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.p14 chr 4	NC_000004.12:g.99144933T>A
GRCh38.p14 chr 4	NC_000004.12:g.99144933T>C
GRCh38.p14 chr 4	NC_000004.12:g.99144933T>G
GRCh37.p13 chr 4	NC_000004.11:g.100066084T>A
GRCh37.p13 chr 4	NC_000004.11:g.100066084T>C
GRCh37.p13 chr 4	NC_000004.11:g.100066084T>G

Gene: ADH4, alcohol dehydrogenase 4 (class II), pi polypeptide (minus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
ADH4 transcript variant 3	NM_000670.5:c.	N/A	Upstream Transcript Variant
ADH4 transcript variant 1	NM_001306171.2:c.	N/A	Upstream Transcript Variant
ADH4 transcript variant 2	NM_001306172.2:c.	N/A	Upstream Transcript Variant

Gene: LOC100507053, uncharacterized LOC100507053 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC100507053 transcript	NR_037884.1:n.	N/A	Intron Variant

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

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	G
GRCh38.p14 chr 4	NC_000004.12:g.99144933=	NC_000004.12:g.99144933T>A	NC_000004.12:g.99144933T>C	NC_000004.12:g.99144933T>G
GRCh37.p13 chr 4	NC_000004.11:g.100066084=	NC_000004.11:g.100066084T>A	NC_000004.11:g.100066084T>C	NC_000004.11:g.100066084T>G

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#.

128 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss4948929	Aug 28, 2002 (107)
2	RIKENSNPRC	ss5603216	Dec 12, 2002 (110)
3	WI_SSAHASNP	ss11694619	Jul 11, 2003 (116)
4	EGP_SNPS	ss35527924	May 25, 2005 (125)
5	PERLEGEN	ss46543410	Mar 13, 2006 (126)
6	IMCJ-GDT	ss46563529	Mar 13, 2006 (126)
7	ILLUMINA	ss65751500	Oct 16, 2006 (127)
8	AFFY	ss66015276	Dec 02, 2006 (127)
9	ILLUMINA	ss66714363	Dec 02, 2006 (127)
10	ILLUMINA	ss67300641	Dec 02, 2006 (127)
11	ILLUMINA	ss67705387	Dec 02, 2006 (127)
12	PERLEGEN	ss68906206	May 18, 2007 (127)
13	ILLUMINA	ss70779275	May 25, 2008 (130)
14	ILLUMINA	ss71355560	May 18, 2007 (127)
15	ILLUMINA	ss75664331	Dec 07, 2007 (129)
16	CGM_KYOTO	ss76860051	Dec 07, 2007 (129)
17	ILLUMINA	ss79165572	Dec 15, 2007 (130)
18	KRIBB_YJKIM	ss84173983	Dec 15, 2007 (130)
19	HGSV	ss85703705	Dec 15, 2007 (130)
20	BCMHGSC_JDW	ss92703004	Mar 24, 2008 (129)
21	BGI	ss104098931	Dec 01, 2009 (131)
22	ILLUMINA	ss122213122	Dec 01, 2009 (131)
23	ENSEMBL	ss139781793	Dec 01, 2009 (131)
24	ILLUMINA	ss154266571	Dec 01, 2009 (131)
25	GMI	ss157649924	Dec 01, 2009 (131)
26	ILLUMINA	ss159443387	Dec 01, 2009 (131)
27	ILLUMINA	ss160638264	Dec 01, 2009 (131)
28	COMPLETE_GENOMICS	ss166943194	Jul 04, 2010 (132)
29	ILLUMINA	ss171637473	Jul 04, 2010 (132)
30	ILLUMINA	ss173629045	Jul 04, 2010 (132)
31	BCM-HGSC-SUB	ss206288433	Jul 04, 2010 (132)
32	1000GENOMES	ss221098476	Jul 14, 2010 (132)
33	1000GENOMES	ss232514858	Jul 14, 2010 (132)
34	1000GENOMES	ss239780000	Jul 15, 2010 (132)
35	GMI	ss277844130	May 04, 2012 (137)
36	GMI	ss284967751	Apr 25, 2013 (138)
37	PJP	ss293147357	May 09, 2011 (134)
38	ILLUMINA	ss480821904	May 04, 2012 (137)
39	ILLUMINA	ss480837577	May 04, 2012 (137)
40	ILLUMINA	ss481767830	Sep 08, 2015 (146)
41	ILLUMINA	ss485205757	May 04, 2012 (137)
42	ILLUMINA	ss537190509	Sep 08, 2015 (146)
43	TISHKOFF	ss557720744	Apr 25, 2013 (138)
44	SSMP	ss651525337	Apr 25, 2013 (138)
45	ILLUMINA	ss778522874	Sep 08, 2015 (146)
46	ILLUMINA	ss783048859	Sep 08, 2015 (146)
47	ILLUMINA	ss784007499	Sep 08, 2015 (146)
48	ILLUMINA	ss825496090	Apr 01, 2015 (144)
49	ILLUMINA	ss832306672	Sep 08, 2015 (146)
50	ILLUMINA	ss832954955	Jul 13, 2019 (153)
51	ILLUMINA	ss833979305	Sep 08, 2015 (146)
52	EVA-GONL	ss980449373	Aug 21, 2014 (142)
53	JMKIDD_LAB	ss1071786671	Aug 21, 2014 (142)
54	1000GENOMES	ss1310977486	Aug 21, 2014 (142)
55	HAMMER_LAB	ss1397383465	Sep 08, 2015 (146)
56	EVA_GENOME_DK	ss1580687133	Apr 01, 2015 (144)
57	EVA_DECODE	ss1589953380	Apr 01, 2015 (144)
58	EVA_UK10K_ALSPAC	ss1610734931	Apr 01, 2015 (144)
59	EVA_UK10K_TWINSUK	ss1653728964	Apr 01, 2015 (144)
60	EVA_SVP	ss1712693059	Apr 01, 2015 (144)
61	ILLUMINA	ss1752489109	Sep 08, 2015 (146)
62	HAMMER_LAB	ss1801908251	Sep 08, 2015 (146)
63	WEILL_CORNELL_DGM	ss1923689555	Feb 12, 2016 (147)
64	ILLUMINA	ss1958706797	Feb 12, 2016 (147)
65	JJLAB	ss2022430697	Sep 14, 2016 (149)
66	USC_VALOUEV	ss2150559853	Dec 20, 2016 (150)
67	HUMAN_LONGEVITY	ss2265420095	Dec 20, 2016 (150)
68	SYSTEMSBIOZJU	ss2625714330	Nov 08, 2017 (151)
69	ILLUMINA	ss2634154424	Nov 08, 2017 (151)
70	GRF	ss2706036812	Nov 08, 2017 (151)
71	ILLUMINA	ss2711011680	Nov 08, 2017 (151)
72	GNOMAD	ss2812847230	Nov 08, 2017 (151)
73	AFFY	ss2985298825	Nov 08, 2017 (151)
74	AFFY	ss2985926597	Nov 08, 2017 (151)
75	SWEGEN	ss2995209441	Nov 08, 2017 (151)
76	ILLUMINA	ss3022398453	Nov 08, 2017 (151)
77	BIOINF_KMB_FNS_UNIBA	ss3024990599	Nov 08, 2017 (151)
78	CSHL	ss3345861497	Nov 08, 2017 (151)
79	ILLUMINA	ss3629025388	Oct 12, 2018 (152)
80	ILLUMINA	ss3632088803	Oct 12, 2018 (152)
81	ILLUMINA	ss3633343275	Oct 12, 2018 (152)
82	ILLUMINA	ss3634062576	Oct 12, 2018 (152)
83	ILLUMINA	ss3634963362	Oct 12, 2018 (152)
84	ILLUMINA	ss3635745304	Oct 12, 2018 (152)
85	ILLUMINA	ss3636667680	Oct 12, 2018 (152)
86	ILLUMINA	ss3637497841	Oct 12, 2018 (152)
87	ILLUMINA	ss3638501661	Oct 12, 2018 (152)
88	ILLUMINA	ss3639253251	Oct 12, 2018 (152)
89	ILLUMINA	ss3639648020	Oct 12, 2018 (152)
90	ILLUMINA	ss3640670656	Oct 12, 2018 (152)
91	ILLUMINA	ss3643451846	Oct 12, 2018 (152)
92	ILLUMINA	ss3652884690	Oct 12, 2018 (152)
93	ILLUMINA	ss3654070693	Oct 12, 2018 (152)
94	EGCUT_WGS	ss3663105149	Jul 13, 2019 (153)
95	EVA_DECODE	ss3712655641	Jul 13, 2019 (153)
96	ILLUMINA	ss3726155578	Jul 13, 2019 (153)
97	ACPOP	ss3731421218	Jul 13, 2019 (153)
98	ILLUMINA	ss3745263623	Jul 13, 2019 (153)
99	EVA	ss3762166453	Jul 13, 2019 (153)
100	PAGE_CC	ss3771142515	Jul 13, 2019 (153)
101	ILLUMINA	ss3772758163	Jul 13, 2019 (153)
102	KHV_HUMAN_GENOMES	ss3805314826	Jul 13, 2019 (153)
103	EVA	ss3828703187	Apr 26, 2020 (154)
104	HGDP	ss3847758943	Apr 26, 2020 (154)
105	SGDP_PRJ	ss3859609400	Apr 26, 2020 (154)
106	KRGDB	ss3905886779	Apr 26, 2020 (154)
107	KOGIC	ss3954741298	Apr 26, 2020 (154)
108	EVA	ss3985085315	Apr 26, 2021 (155)
109	EVA	ss4017159501	Apr 26, 2021 (155)
110	TOPMED	ss4624617007	Apr 26, 2021 (155)
111	TOMMO_GENOMICS	ss5167075910	Apr 26, 2021 (155)
112	1000G_HIGH_COVERAGE	ss5260286646	Oct 13, 2022 (156)
113	EVA	ss5314977494	Oct 13, 2022 (156)
114	EVA	ss5350972694	Oct 13, 2022 (156)
115	HUGCELL_USP	ss5458929242	Oct 13, 2022 (156)
116	EVA	ss5507641160	Oct 13, 2022 (156)
117	1000G_HIGH_COVERAGE	ss5541953286	Oct 13, 2022 (156)
118	SANFORD_IMAGENETICS	ss5624562689	Oct 13, 2022 (156)
119	SANFORD_IMAGENETICS	ss5635664506	Oct 13, 2022 (156)
120	TOMMO_GENOMICS	ss5701806330	Oct 13, 2022 (156)
121	EVA	ss5799622211	Oct 13, 2022 (156)
122	YY_MCH	ss5805353591	Oct 13, 2022 (156)
123	EVA	ss5844423325	Oct 13, 2022 (156)
124	EVA	ss5847247736	Oct 13, 2022 (156)
125	EVA	ss5854355746	Oct 13, 2022 (156)
126	EVA	ss5864674800	Oct 13, 2022 (156)
127	EVA	ss5964055092	Oct 13, 2022 (156)
128	EVA	ss5979708724	Oct 13, 2022 (156)
129	1000Genomes	NC_000004.11 - 100066084	Oct 12, 2018 (152)
130	1000Genomes_30x	NC_000004.12 - 99144933	Oct 13, 2022 (156)
131	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 100066084	Oct 12, 2018 (152)
132	Genome-wide autozygosity in Daghestan	NC_000004.10 - 100285107	Apr 26, 2020 (154)
133	Genetic variation in the Estonian population	NC_000004.11 - 100066084	Oct 12, 2018 (152)
134	The Danish reference pan genome	NC_000004.11 - 100066084	Apr 26, 2020 (154)
135	gnomAD - Genomes	NC_000004.12 - 99144933	Apr 26, 2021 (155)
136	Genome of the Netherlands Release 5	NC_000004.11 - 100066084	Apr 26, 2020 (154)
137	HGDP-CEPH-db Supplement 1	NC_000004.10 - 100285107	Apr 26, 2020 (154)
138	HapMap	NC_000004.12 - 99144933	Apr 26, 2020 (154)
139	KOREAN population from KRGDB	NC_000004.11 - 100066084	Apr 26, 2020 (154)
140	Korean Genome Project	NC_000004.12 - 99144933	Apr 26, 2020 (154)
141	Northern Sweden	NC_000004.11 - 100066084	Jul 13, 2019 (153)
142	The PAGE Study	NC_000004.12 - 99144933	Jul 13, 2019 (153)
143	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000004.11 - 100066084	Apr 26, 2021 (155)
144	Qatari	NC_000004.11 - 100066084	Apr 26, 2020 (154)
145	SGDP_PRJ	NC_000004.11 - 100066084	Apr 26, 2020 (154)
146	Siberian	NC_000004.11 - 100066084	Apr 26, 2020 (154)
147	8.3KJPN	NC_000004.11 - 100066084	Apr 26, 2021 (155)
148	14KJPN	NC_000004.12 - 99144933	Oct 13, 2022 (156)
149	TopMed	NC_000004.12 - 99144933	Apr 26, 2021 (155)
150	UK 10K study - Twins	NC_000004.11 - 100066084	Oct 12, 2018 (152)
151	A Vietnamese Genetic Variation Database	NC_000004.11 - 100066084	Jul 13, 2019 (153)
152	ALFA	NC_000004.12 - 99144933	Apr 26, 2021 (155)

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)
rs59919274	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
13064173, ss3905886779	NC_000004.11:100066083:T:A	NC_000004.12:99144932:T:A	(self)
ss85703705, ss3639253251, ss3639648020	NC_000004.9:100423261:T:C	NC_000004.12:99144932:T:C	(self)
358868, 436835, ss92703004, ss166943194, ss206288433, ss277844130, ss284967751, ss293147357, ss480821904, ss825496090, ss1397383465, ss1589953380, ss1712693059, ss3643451846, ss3847758943	NC_000004.10:100285106:T:C	NC_000004.12:99144932:T:C	(self)
22419592, 12470987, 8843397, 6852072, 5512861, 13064173, 4706083, 311242, 5731485, 11626380, 3076207, 25045217, 12470987, 2744104, ss221098476, ss232514858, ss239780000, ss480837577, ss481767830, ss485205757, ss537190509, ss557720744, ss651525337, ss778522874, ss783048859, ss784007499, ss832306672, ss832954955, ss833979305, ss980449373, ss1071786671, ss1310977486, ss1580687133, ss1610734931, ss1653728964, ss1752489109, ss1801908251, ss1923689555, ss1958706797, ss2022430697, ss2150559853, ss2625714330, ss2634154424, ss2706036812, ss2711011680, ss2812847230, ss2985298825, ss2985926597, ss2995209441, ss3022398453, ss3345861497, ss3629025388, ss3632088803, ss3633343275, ss3634062576, ss3634963362, ss3635745304, ss3636667680, ss3637497841, ss3638501661, ss3640670656, ss3652884690, ss3654070693, ss3663105149, ss3731421218, ss3745263623, ss3762166453, ss3772758163, ss3828703187, ss3859609400, ss3905886779, ss3985085315, ss4017159501, ss5167075910, ss5314977494, ss5350972694, ss5507641160, ss5624562689, ss5635664506, ss5799622211, ss5844423325, ss5847247736, ss5964055092, ss5979708724	NC_000004.11:100066083:T:C	NC_000004.12:99144932:T:C	(self)
29479221, 158814930, 2670172, 11119299, 363984, 35643434, 461994563, 3134507583, ss2265420095, ss3024990599, ss3712655641, ss3726155578, ss3771142515, ss3805314826, ss3954741298, ss4624617007, ss5260286646, ss5458929242, ss5541953286, ss5701806330, ss5805353591, ss5854355746, ss5864674800	NC_000004.12:99144932:T:C	NC_000004.12:99144932:T:C	(self)
ss11694619	NT_016354.15:24560787:T:C	NC_000004.12:99144932:T:C	(self)
ss4948929, ss5603216, ss35527924, ss46543410, ss46563529, ss65751500, ss66015276, ss66714363, ss67300641, ss67705387, ss68906206, ss70779275, ss71355560, ss75664331, ss76860051, ss79165572, ss84173983, ss104098931, ss122213122, ss139781793, ss154266571, ss157649924, ss159443387, ss160638264, ss171637473, ss173629045	NT_016354.19:24613804:T:C	NC_000004.12:99144932:T:C	(self)
3134507583	NC_000004.12:99144932:T:G	NC_000004.12:99144932:T:G	(self)

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

11 citations for rs3762894

PMID	Title	Author	Year	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
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
19193628	ADH single nucleotide polymorphism associations with alcohol metabolism in vivo.	Birley AJ et al.	2009	Human molecular genetics
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
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
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
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
23166662	Fetal alcohol exposure and IQ at age 8: evidence from a population-based birth-cohort study.	Lewis SJ et al.	2012	PloS one
26753847	Parent and peer influences on emerging adult substance use disorder: A genetically informed study.	Bountress K et al.	2017	Development and psychopathology
26803317	Passive rGE or Developmental Gene-Environment Cascade? An Investigation of the Role of Xenobiotic Metabolism Genes in the Association Between Smoke Exposure During Pregnancy and Child Birth Weight.	Marceau K et al.	2016	Behavior genetics

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
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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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs3762894