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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 Aliases 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.

rs1159918

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr4:99321852 (GRCh38.p12) 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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.46160 (57962/125568, TOPMED)
A=0.4531 (14175/31286, GnomAD)
A=0.451 (2261/5008, 1000G) (+ 5 more)
A=0.333 (1492/4480, Estonian)
A=0.342 (1318/3854, ALSPAC)
A=0.345 (1280/3708, TWINSUK)
A=0.41 (248/600, NorthernSweden)
A=0.14 (31/216, Vietnamese)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ADH1B : 2KB Upstream Variant
Publications
14 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.p12 chr 4 NC_000004.12:g.99321852A>C
GRCh37.p13 chr 4 NC_000004.11:g.100243009A>C
ADH1B RefSeqGene NG_011435.1:g.4564T>G
Gene: ADH1B, alcohol dehydrogenase 1B (class I), beta polypeptide (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
ADH1B transcript variant 1 NM_000668.6:c. N/A Upstream Transcript Variant
ADH1B transcript variant 2 NM_001286650.2:c. N/A Upstream Transcript Variant
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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
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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 125568 A=0.46160 C=0.53840
gnomAD - Genomes Global Study-wide 31286 A=0.4531 C=0.5469
gnomAD - Genomes European Sub 18842 A=0.3572 C=0.6428
gnomAD - Genomes African Sub 8676 A=0.706 C=0.294
gnomAD - Genomes East Asian Sub 1554 A=0.172 C=0.828
gnomAD - Genomes Other Sub 1080 A=0.416 C=0.584
gnomAD - Genomes American Sub 844 A=0.61 C=0.39
gnomAD - Genomes Ashkenazi Jewish Sub 290 A=0.32 C=0.68
1000Genomes Global Study-wide 5008 A=0.451 C=0.549
1000Genomes African Sub 1322 A=0.761 C=0.239
1000Genomes East Asian Sub 1008 A=0.175 C=0.825
1000Genomes Europe Sub 1006 A=0.328 C=0.672
1000Genomes South Asian Sub 978 A=0.34 C=0.66
1000Genomes American Sub 694 A=0.60 C=0.40
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.333 C=0.667
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.342 C=0.658
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.345 C=0.655
Northern Sweden ACPOP Study-wide 600 A=0.41 C=0.59
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.14 C=0.86
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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= C Note
GRCh38.p12 chr 4 NC_000004.12:g.99321852= NC_000004.12:g.99321852A>C
GRCh37.p13 chr 4 NC_000004.11:g.100243009= NC_000004.11:g.10024300...

NC_000004.11:g.100243009A>C

ADH1B RefSeqGene NG_011435.1:g.4564= NG_011435.1:g.4564T>G
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#.

106 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss1564409 Oct 18, 2000 (87)
2 CSHL-HAPMAP ss20223382 Feb 27, 2004 (120)
3 SSAHASNP ss22177223 Apr 05, 2004 (121)
4 EGP_SNPS ss38318465 May 24, 2005 (125)
5 ABI ss44570343 Mar 14, 2006 (126)
6 ILLUMINA ss65757701 Oct 16, 2006 (127)
7 ILLUMINA ss66603618 Dec 02, 2006 (127)
8 ILLUMINA ss66934687 Dec 02, 2006 (127)
9 ILLUMINA ss67094982 Dec 02, 2006 (127)
10 PERLEGEN ss68906233 May 18, 2007 (127)
11 ILLUMINA ss70395246 May 18, 2007 (127)
12 ILLUMINA ss70531343 May 23, 2008 (130)
13 ILLUMINA ss71062060 May 18, 2007 (127)
14 ILLUMINA ss75436933 Dec 07, 2007 (129)
15 HGSV ss83655354 Dec 14, 2007 (130)
16 KRIBB_YJKIM ss83692894 Dec 14, 2007 (130)
17 BCMHGSC_JDW ss92703410 Mar 24, 2008 (129)
18 BGI ss105848343 Feb 04, 2009 (130)
19 1000GENOMES ss108171391 Jan 23, 2009 (130)
20 ILLUMINA ss121479402 Dec 01, 2009 (131)
21 ENSEMBL ss133259081 Dec 01, 2009 (131)
22 ENSEMBL ss139782344 Dec 01, 2009 (131)
23 ILLUMINA ss153002479 Dec 01, 2009 (131)
24 GMI ss157651084 Dec 01, 2009 (131)
25 ILLUMINA ss159177908 Dec 01, 2009 (131)
26 ILLUMINA ss159984302 Dec 01, 2009 (131)
27 COMPLETE_GENOMICS ss162380684 Jul 04, 2010 (132)
28 COMPLETE_GENOMICS ss166944283 Jul 04, 2010 (132)
29 ILLUMINA ss169884471 Jul 04, 2010 (132)
30 ILLUMINA ss171329167 Jul 04, 2010 (132)
31 BUSHMAN ss198921727 Jul 04, 2010 (132)
32 BCM-HGSC-SUB ss206344077 Jul 04, 2010 (132)
33 1000GENOMES ss221098968 Jul 14, 2010 (132)
34 1000GENOMES ss232515283 Jul 14, 2010 (132)
35 1000GENOMES ss239780207 Jul 15, 2010 (132)
36 GMI ss277844564 May 04, 2012 (137)
37 GMI ss284967936 Apr 25, 2013 (138)
38 PJP ss293147603 May 09, 2011 (134)
39 ILLUMINA ss479536765 May 04, 2012 (137)
40 ILLUMINA ss479540650 May 04, 2012 (137)
41 ILLUMINA ss480003031 Sep 08, 2015 (146)
42 ILLUMINA ss484567261 May 04, 2012 (137)
43 ILLUMINA ss536702121 Sep 08, 2015 (146)
44 TISHKOFF ss557721464 Apr 25, 2013 (138)
45 SSMP ss651525956 Apr 25, 2013 (138)
46 ILLUMINA ss778760037 Sep 08, 2015 (146)
47 ILLUMINA ss782730375 Sep 08, 2015 (146)
48 ILLUMINA ss783697603 Sep 08, 2015 (146)
49 ILLUMINA ss825364641 Apr 01, 2015 (144)
50 ILLUMINA ss831982125 Sep 08, 2015 (146)
51 ILLUMINA ss832690421 Jul 13, 2019 (153)
52 ILLUMINA ss834219789 Sep 08, 2015 (146)
53 EVA-GONL ss980450680 Aug 21, 2014 (142)
54 JMKIDD_LAB ss1071787527 Aug 21, 2014 (142)
55 1000GENOMES ss1310981786 Aug 21, 2014 (142)
56 HAMMER_LAB ss1397383497 Sep 08, 2015 (146)
57 DDI ss1429982876 Apr 01, 2015 (144)
58 EVA_GENOME_DK ss1580687657 Apr 01, 2015 (144)
59 EVA_DECODE ss1589954782 Apr 01, 2015 (144)
60 EVA_UK10K_ALSPAC ss1610737442 Apr 01, 2015 (144)
61 EVA_UK10K_TWINSUK ss1653731475 Apr 01, 2015 (144)
62 EVA_SVP ss1712693144 Apr 01, 2015 (144)
63 ILLUMINA ss1752489212 Sep 08, 2015 (146)
64 WEILL_CORNELL_DGM ss1923690731 Feb 12, 2016 (147)
65 GENOMED ss1969816927 Jul 19, 2016 (147)
66 JJLAB ss2022431323 Sep 14, 2016 (149)
67 USC_VALOUEV ss2150560490 Dec 20, 2016 (150)
68 HUMAN_LONGEVITY ss2265429589 Dec 20, 2016 (150)
69 TOPMED ss2433248161 Dec 20, 2016 (150)
70 SYSTEMSBIOZJU ss2625714549 Nov 08, 2017 (151)
71 ILLUMINA ss2634154589 Nov 08, 2017 (151)
72 ILLUMINA ss2635134992 Nov 08, 2017 (151)
73 GRF ss2706037255 Nov 08, 2017 (151)
74 GNOMAD ss2812860469 Nov 08, 2017 (151)
75 AFFY ss2985926781 Nov 08, 2017 (151)
76 SWEGEN ss2995211326 Nov 08, 2017 (151)
77 ILLUMINA ss3022398592 Nov 08, 2017 (151)
78 BIOINF_KMB_FNS_UNIBA ss3024990925 Nov 08, 2017 (151)
79 CSHL ss3345862055 Nov 08, 2017 (151)
80 TOPMED ss3437253697 Nov 08, 2017 (151)
81 ILLUMINA ss3629025625 Oct 12, 2018 (152)
82 ILLUMINA ss3632088937 Oct 12, 2018 (152)
83 ILLUMINA ss3633343350 Oct 12, 2018 (152)
84 ILLUMINA ss3634062655 Oct 12, 2018 (152)
85 ILLUMINA ss3634963462 Oct 12, 2018 (152)
86 ILLUMINA ss3635745382 Oct 12, 2018 (152)
87 ILLUMINA ss3636667779 Oct 12, 2018 (152)
88 ILLUMINA ss3637497918 Oct 12, 2018 (152)
89 ILLUMINA ss3638501777 Oct 12, 2018 (152)
90 ILLUMINA ss3639253274 Oct 12, 2018 (152)
91 ILLUMINA ss3639648038 Oct 12, 2018 (152)
92 ILLUMINA ss3640670755 Oct 12, 2018 (152)
93 ILLUMINA ss3643451944 Oct 12, 2018 (152)
94 URBANLAB ss3647802778 Oct 12, 2018 (152)
95 ILLUMINA ss3652884833 Oct 12, 2018 (152)
96 EGCUT_WGS ss3663107283 Jul 13, 2019 (153)
97 EVA_DECODE ss3712657876 Jul 13, 2019 (153)
98 ILLUMINA ss3726155697 Jul 13, 2019 (153)
99 ACPOP ss3731422267 Jul 13, 2019 (153)
100 ILLUMINA ss3745263721 Jul 13, 2019 (153)
101 EVA ss3762167538 Jul 13, 2019 (153)
102 ILLUMINA ss3772758259 Jul 13, 2019 (153)
103 PACBIO ss3784802110 Jul 13, 2019 (153)
104 PACBIO ss3790246746 Jul 13, 2019 (153)
105 PACBIO ss3795122149 Jul 13, 2019 (153)
106 KHV_HUMAN_GENOMES ss3805315995 Jul 13, 2019 (153)
107 1000Genomes NC_000004.11 - 100243009 Oct 12, 2018 (152)
108 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 100243009 Oct 12, 2018 (152)
109 Genetic variation in the Estonian population NC_000004.11 - 100243009 Oct 12, 2018 (152)
110 gnomAD - Genomes NC_000004.11 - 100243009 Jul 13, 2019 (153)
111 Northern Sweden NC_000004.11 - 100243009 Jul 13, 2019 (153)
112 TopMed NC_000004.12 - 99321852 Oct 12, 2018 (152)
113 UK 10K study - Twins NC_000004.11 - 100243009 Oct 12, 2018 (152)
114 A Vietnamese Genetic Variation Database NC_000004.11 - 100243009 Jul 13, 2019 (153)
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)
rs57531771 May 23, 2008 (130)
rs386520204 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss83655354, ss3639253274, ss3639648038 NC_000004.9:100600186:A:C NC_000004.12:99321851:A:C (self)
ss92703410, ss108171391, ss159984302, ss162380684, ss166944283, ss198921727, ss206344077, ss277844564, ss284967936, ss293147603, ss479536765, ss825364641, ss1397383497, ss1589954782, ss1712693144, ss2635134992, ss3643451944 NC_000004.10:100462031:A:C NC_000004.12:99321851:A:C (self)
22424047, 12473764, 8845531, 61272778, 4707132, 12473764, 2744550, ss221098968, ss232515283, ss239780207, ss479540650, ss480003031, ss484567261, ss536702121, ss557721464, ss651525956, ss778760037, ss782730375, ss783697603, ss831982125, ss832690421, ss834219789, ss980450680, ss1071787527, ss1310981786, ss1429982876, ss1580687657, ss1610737442, ss1653731475, ss1752489212, ss1923690731, ss1969816927, ss2022431323, ss2150560490, ss2433248161, ss2625714549, ss2634154589, ss2706037255, ss2812860469, ss2985926781, ss2995211326, ss3022398592, ss3345862055, ss3629025625, ss3632088937, ss3633343350, ss3634062655, ss3634963462, ss3635745382, ss3636667779, ss3637497918, ss3638501777, ss3640670755, ss3652884833, ss3663107283, ss3731422267, ss3745263721, ss3762167538, ss3772758259, ss3784802110, ss3790246746, ss3795122149 NC_000004.11:100243008:A:C NC_000004.12:99321851:A:C (self)
288819094, ss2265429589, ss3024990925, ss3437253697, ss3647802778, ss3712657876, ss3726155697, ss3805315995 NC_000004.12:99321851:A:C NC_000004.12:99321851:A:C (self)
ss20223382, ss22177223 NT_016354.16:24737712:A:C NC_000004.12:99321851:A:C (self)
ss1564409, ss38318465, ss44570343, ss65757701, ss66603618, ss66934687, ss67094982, ss68906233, ss70395246, ss70531343, ss71062060, ss75436933, ss83692894, ss105848343, ss121479402, ss133259081, ss139782344, ss153002479, ss157651084, ss159177908, ss169884471, ss171329167 NT_016354.19:24790729:A:C NC_000004.12:99321851:A:C (self)
Help

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

14 citations for rs1159918
PMID Title Author Year Journal
17273965 Evidence of positive selection on a class I ADH locus. Han Y et al. 2007 American journal of human 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
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
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
20089146 The ADH1B Arg47His polymorphism in east Asian populations and expansion of rice domestication in history. Peng Y et al. 2010 BMC evolutionary biology
20729852 A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma. Abnet CC et al. 2010 Nature 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
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
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
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
23895337 Alcohol-metabolizing genes and alcohol phenotypes in an Israeli household sample. Meyers JL et al. 2013 Alcoholism, clinical and experimental research

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.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post308+0fe9b3b