Name: rs4147532
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.

rs4147532

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:99290629 (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>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.390053 (103243/264690, TOPMED)
C=0.442701 (79293/179112, ALFA)
C=0.396442 (55490/139970, GnomAD) (+ 15 more)
C=0.09059 (2560/28258, 14KJPN)
C=0.08723 (1462/16760, 8.3KJPN)
C=0.3029 (1940/6404, 1000G_30x)
C=0.2931 (1468/5008, 1000G)
C=0.4464 (2000/4480, Estonian)
C=0.4702 (1812/3854, ALSPAC)
C=0.4857 (1801/3708, TWINSUK)
C=0.1211 (354/2922, KOREAN)
C=0.452 (451/998, GoNL)
C=0.487 (292/600, NorthernSweden)
T=0.382 (117/306, SGDP_PRJ)
C=0.370 (80/216, Qatari)
C=0.065 (14/214, Vietnamese)
C=0.38 (15/40, GENOME_DK)
T=0.30 (12/40, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ADH1A : Intron Variant
LOC100507053 : Intron Variant
Publications: 2 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	179112	T=0.557299	C=0.442701, G=0.000000
European	Sub	156360	T=0.536569	C=0.463431, G=0.000000
African	Sub	8256	T=0.8132	C=0.1868, G=0.0000
African Others	Sub	298	T=0.859	C=0.141, G=0.000
African American	Sub	7958	T=0.8115	C=0.1885, G=0.0000
Asian	Sub	390	T=0.910	C=0.090, G=0.000
East Asian	Sub	280	T=0.918	C=0.082, G=0.000
Other Asian	Sub	110	T=0.891	C=0.109, G=0.000
Latin American 1	Sub	632	T=0.628	C=0.372, G=0.000
Latin American 2	Sub	2150	T=0.5228	C=0.4772, G=0.0000
South Asian	Sub	4996	T=0.7684	C=0.2316, G=0.0000
Other	Sub	6328	T=0.5518	C=0.4482, G=0.0000

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=0.609947	C=0.390053
Allele Frequency Aggregator	Total	Global	179112	T=0.557299	C=0.442701, G=0.000000
Allele Frequency Aggregator	European	Sub	156360	T=0.536569	C=0.463431, G=0.000000
Allele Frequency Aggregator	African	Sub	8256	T=0.8132	C=0.1868, G=0.0000
Allele Frequency Aggregator	Other	Sub	6328	T=0.5518	C=0.4482, G=0.0000
Allele Frequency Aggregator	South Asian	Sub	4996	T=0.7684	C=0.2316, G=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	2150	T=0.5228	C=0.4772, G=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	632	T=0.628	C=0.372, G=0.000
Allele Frequency Aggregator	Asian	Sub	390	T=0.910	C=0.090, G=0.000
gnomAD - Genomes	Global	Study-wide	139970	T=0.603558	C=0.396442
gnomAD - Genomes	European	Sub	75798	T=0.52995	C=0.47005
gnomAD - Genomes	African	Sub	41948	T=0.76614	C=0.23386
gnomAD - Genomes	American	Sub	13634	T=0.48687	C=0.51313
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.4518	C=0.5482
gnomAD - Genomes	East Asian	Sub	3118	T=0.8948	C=0.1052
gnomAD - Genomes	Other	Sub	2150	T=0.5786	C=0.4214
14KJPN	JAPANESE	Study-wide	28258	T=0.90941	C=0.09059
8.3KJPN	JAPANESE	Study-wide	16760	T=0.91277	C=0.08723
1000Genomes_30x	Global	Study-wide	6404	T=0.6971	C=0.3029
1000Genomes_30x	African	Sub	1786	T=0.7816	C=0.2184
1000Genomes_30x	Europe	Sub	1266	T=0.4992	C=0.5008
1000Genomes_30x	South Asian	Sub	1202	T=0.8261	C=0.1739
1000Genomes_30x	East Asian	Sub	1170	T=0.8803	C=0.1197
1000Genomes_30x	American	Sub	980	T=0.421	C=0.579
1000Genomes	Global	Study-wide	5008	T=0.7069	C=0.2931
1000Genomes	African	Sub	1322	T=0.7799	C=0.2201
1000Genomes	East Asian	Sub	1008	T=0.8879	C=0.1121
1000Genomes	Europe	Sub	1006	T=0.5020	C=0.4980
1000Genomes	South Asian	Sub	978	T=0.830	C=0.170
1000Genomes	American	Sub	694	T=0.428	C=0.572
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.5536	C=0.4464
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.5298	C=0.4702
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.5143	C=0.4857
KOREAN population from KRGDB	KOREAN	Study-wide	2922	T=0.8789	C=0.1211
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.548	C=0.452
Northern Sweden	ACPOP	Study-wide	600	T=0.513	C=0.487
SGDP_PRJ	Global	Study-wide	306	T=0.382	C=0.618
Qatari	Global	Study-wide	216	T=0.630	C=0.370
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.935	C=0.065
The Danish reference pan genome	Danish	Study-wide	40	T=0.62	C=0.38
Siberian	Global	Study-wide	40	T=0.30	C=0.70

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.99290629T>C
GRCh38.p14 chr 4	NC_000004.12:g.99290629T>G
GRCh37.p13 chr 4	NC_000004.11:g.100211786T>C
GRCh37.p13 chr 4	NC_000004.11:g.100211786T>G

Gene: ADH1A, alcohol dehydrogenase 1A (class I), alpha polypeptide (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ADH1A transcript	NM_000667.4:c.18+268A>G	N/A	Intron 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=	C	G
GRCh38.p14 chr 4	NC_000004.12:g.99290629=	NC_000004.12:g.99290629T>C	NC_000004.12:g.99290629T>G
GRCh37.p13 chr 4	NC_000004.11:g.100211786=	NC_000004.11:g.100211786T>C	NC_000004.11:g.100211786T>G
ADH1A transcript	NM_000667.3:c.18+268=	NM_000667.3:c.18+268A>G	NM_000667.3:c.18+268A>C
ADH1A transcript	NM_000667.4:c.18+268=	NM_000667.4:c.18+268A>G	NM_000667.4:c.18+268A>C

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#.

96 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	RIKENSNPRC	ss5600832	Dec 16, 2002 (110)
2	PERLEGEN	ss24363621	Sep 20, 2004 (123)
3	EGP_SNPS	ss35072337	May 24, 2005 (125)
4	CGM_KYOTO	ss76859964	Dec 06, 2007 (129)
5	HGSV	ss77359862	Dec 06, 2007 (129)
6	HUMANGENOME_JCVI	ss98986842	Feb 06, 2009 (130)
7	1000GENOMES	ss108171200	Jan 23, 2009 (130)
8	ILLUMINA-UK	ss117113759	Feb 14, 2009 (130)
9	ENSEMBL	ss142944472	Dec 01, 2009 (131)
10	ILLUMINA	ss154283479	Dec 01, 2009 (131)
11	ILLUMINA	ss159460388	Dec 01, 2009 (131)
12	ILLUMINA	ss160664009	Dec 01, 2009 (131)
13	COMPLETE_GENOMICS	ss162380455	Jul 04, 2010 (132)
14	ILLUMINA	ss173692421	Jul 04, 2010 (132)
15	BUSHMAN	ss198921433	Jul 04, 2010 (132)
16	1000GENOMES	ss221098879	Jul 14, 2010 (132)
17	1000GENOMES	ss232515208	Jul 14, 2010 (132)
18	1000GENOMES	ss239780171	Jul 15, 2010 (132)
19	BL	ss253372289	May 09, 2011 (134)
20	GMI	ss277844502	May 04, 2012 (137)
21	PJP	ss293147561	May 09, 2011 (134)
22	ILLUMINA	ss480897466	May 04, 2012 (137)
23	ILLUMINA	ss480916352	May 04, 2012 (137)
24	ILLUMINA	ss481870629	Sep 08, 2015 (146)
25	ILLUMINA	ss485243744	May 04, 2012 (137)
26	ILLUMINA	ss537216882	Sep 08, 2015 (146)
27	TISHKOFF	ss557721346	Apr 25, 2013 (138)
28	SSMP	ss651525851	Apr 25, 2013 (138)
29	ILLUMINA	ss778530899	Sep 08, 2015 (146)
30	ILLUMINA	ss783067810	Sep 08, 2015 (146)
31	ILLUMINA	ss784025718	Sep 08, 2015 (146)
32	ILLUMINA	ss832325886	Sep 08, 2015 (146)
33	ILLUMINA	ss832971893	Jul 13, 2019 (153)
34	ILLUMINA	ss833987425	Sep 08, 2015 (146)
35	EVA-GONL	ss980450483	Aug 21, 2014 (142)
36	JMKIDD_LAB	ss1071787381	Aug 21, 2014 (142)
37	1000GENOMES	ss1310981041	Aug 21, 2014 (142)
38	DDI	ss1429982818	Apr 01, 2015 (144)
39	EVA_GENOME_DK	ss1580687574	Apr 01, 2015 (144)
40	EVA_DECODE	ss1589954536	Apr 01, 2015 (144)
41	EVA_UK10K_ALSPAC	ss1610736997	Apr 01, 2015 (144)
42	EVA_UK10K_TWINSUK	ss1653731030	Apr 01, 2015 (144)
43	ILLUMINA	ss1752489181	Sep 08, 2015 (146)
44	WEILL_CORNELL_DGM	ss1923690507	Feb 12, 2016 (147)
45	GENOMED	ss1969816883	Jul 19, 2016 (147)
46	JJLAB	ss2022431222	Sep 14, 2016 (149)
47	USC_VALOUEV	ss2150560396	Dec 20, 2016 (150)
48	HUMAN_LONGEVITY	ss2265427907	Dec 20, 2016 (150)
49	ILLUMINA	ss2634154548	Nov 08, 2017 (151)
50	GRF	ss2706037191	Nov 08, 2017 (151)
51	GNOMAD	ss2812858109	Nov 08, 2017 (151)
52	SWEGEN	ss2995211008	Nov 08, 2017 (151)
53	BIOINF_KMB_FNS_UNIBA	ss3024990877	Nov 08, 2017 (151)
54	CSHL	ss3345861964	Nov 08, 2017 (151)
55	ILLUMINA	ss3629025566	Oct 12, 2018 (152)
56	ILLUMINA	ss3632088905	Oct 12, 2018 (152)
57	ILLUMINA	ss3633343330	Oct 12, 2018 (152)
58	ILLUMINA	ss3634062633	Oct 12, 2018 (152)
59	ILLUMINA	ss3634963435	Oct 12, 2018 (152)
60	ILLUMINA	ss3635745361	Oct 12, 2018 (152)
61	ILLUMINA	ss3636667747	Oct 12, 2018 (152)
62	ILLUMINA	ss3637497898	Oct 12, 2018 (152)
63	ILLUMINA	ss3638501743	Oct 12, 2018 (152)
64	ILLUMINA	ss3640670729	Oct 12, 2018 (152)
65	URBANLAB	ss3647802721	Oct 12, 2018 (152)
66	EGCUT_WGS	ss3663106887	Jul 13, 2019 (153)
67	EVA_DECODE	ss3712657453	Jul 13, 2019 (153)
68	ACPOP	ss3731422098	Jul 13, 2019 (153)
69	ILLUMINA	ss3745263695	Jul 13, 2019 (153)
70	EVA	ss3762167371	Jul 13, 2019 (153)
71	ILLUMINA	ss3772758233	Jul 13, 2019 (153)
72	PACBIO	ss3784802048	Jul 13, 2019 (153)
73	PACBIO	ss3790246702	Jul 13, 2019 (153)
74	PACBIO	ss3795122105	Jul 13, 2019 (153)
75	KHV_HUMAN_GENOMES	ss3805315809	Jul 13, 2019 (153)
76	EVA	ss3828703718	Apr 26, 2020 (154)
77	EVA	ss3837792951	Apr 26, 2020 (154)
78	EVA	ss3843231343	Apr 26, 2020 (154)
79	SGDP_PRJ	ss3859611257	Apr 26, 2020 (154)
80	KRGDB	ss3905888754	Apr 26, 2020 (154)
81	TOPMED	ss4624651989	Apr 26, 2021 (155)
82	TOMMO_GENOMICS	ss5167079711	Apr 26, 2021 (155)
83	1000G_HIGH_COVERAGE	ss5260289511	Oct 13, 2022 (156)
84	EVA	ss5314977548	Oct 13, 2022 (156)
85	HUGCELL_USP	ss5458931877	Oct 13, 2022 (156)
86	EVA	ss5507641653	Oct 13, 2022 (156)
87	1000G_HIGH_COVERAGE	ss5541957989	Oct 13, 2022 (156)
88	SANFORD_IMAGENETICS	ss5635666212	Oct 13, 2022 (156)
89	TOMMO_GENOMICS	ss5701811326	Oct 13, 2022 (156)
90	EVA	ss5799622241	Oct 13, 2022 (156)
91	YY_MCH	ss5805354211	Oct 13, 2022 (156)
92	EVA	ss5844424694	Oct 13, 2022 (156)
93	EVA	ss5854356111	Oct 13, 2022 (156)
94	EVA	ss5864678315	Oct 13, 2022 (156)
95	EVA	ss5964056956	Oct 13, 2022 (156)
96	EVA	ss5980240226	Oct 13, 2022 (156)
97	1000Genomes	NC_000004.11 - 100211786	Oct 12, 2018 (152)
98	1000Genomes_30x	NC_000004.12 - 99290629	Oct 13, 2022 (156)
99	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 100211786	Oct 12, 2018 (152)
100	Genetic variation in the Estonian population	NC_000004.11 - 100211786	Oct 12, 2018 (152)
101	The Danish reference pan genome	NC_000004.11 - 100211786	Apr 26, 2020 (154)
102	gnomAD - Genomes	NC_000004.12 - 99290629	Apr 26, 2021 (155)
103	Genome of the Netherlands Release 5	NC_000004.11 - 100211786	Apr 26, 2020 (154)
104	KOREAN population from KRGDB	NC_000004.11 - 100211786	Apr 26, 2020 (154)
105	Northern Sweden	NC_000004.11 - 100211786	Jul 13, 2019 (153)
106	Qatari	NC_000004.11 - 100211786	Apr 26, 2020 (154)
107	SGDP_PRJ	NC_000004.11 - 100211786	Apr 26, 2020 (154)
108	Siberian	NC_000004.11 - 100211786	Apr 26, 2020 (154)
109	8.3KJPN	NC_000004.11 - 100211786	Apr 26, 2021 (155)
110	14KJPN	NC_000004.12 - 99290629	Oct 13, 2022 (156)
111	TopMed	NC_000004.12 - 99290629	Apr 26, 2021 (155)
112	UK 10K study - Twins	NC_000004.11 - 100211786	Oct 12, 2018 (152)
113	A Vietnamese Genetic Variation Database	NC_000004.11 - 100211786	Jul 13, 2019 (153)
114	ALFA	NC_000004.12 - 99290629	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)
rs17512316	Oct 07, 2004 (123)
rs386591394	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss77359862	NC_000004.9:100568963:T:C	NC_000004.12:99290628:T:C	(self)
ss108171200, ss117113759, ss162380455, ss198921433, ss253372289, ss277844502, ss293147561, ss480897466, ss1589954536	NC_000004.10:100430808:T:C	NC_000004.12:99290628:T:C	(self)
22423276, 12473276, 8845135, 6852513, 5513965, 13066148, 4706963, 5732437, 11628237, 3076750, 25049018, 12473276, 2744471, ss221098879, ss232515208, ss239780171, ss480916352, ss481870629, ss485243744, ss537216882, ss557721346, ss651525851, ss778530899, ss783067810, ss784025718, ss832325886, ss832971893, ss833987425, ss980450483, ss1071787381, ss1310981041, ss1429982818, ss1580687574, ss1610736997, ss1653731030, ss1752489181, ss1923690507, ss1969816883, ss2022431222, ss2150560396, ss2634154548, ss2706037191, ss2812858109, ss2995211008, ss3345861964, ss3629025566, ss3632088905, ss3633343330, ss3634062633, ss3634963435, ss3635745361, ss3636667747, ss3637497898, ss3638501743, ss3640670729, ss3663106887, ss3731422098, ss3745263695, ss3762167371, ss3772758233, ss3784802048, ss3790246702, ss3795122105, ss3828703718, ss3837792951, ss3859611257, ss3905888754, ss5167079711, ss5314977548, ss5507641653, ss5635666212, ss5799622241, ss5844424694, ss5964056956, ss5980240226	NC_000004.11:100211785:T:C	NC_000004.12:99290628:T:C	(self)
29483924, 158843103, 35648430, 462029545, 2179439721, ss2265427907, ss3024990877, ss3647802721, ss3712657453, ss3805315809, ss3843231343, ss4624651989, ss5260289511, ss5458931877, ss5541957989, ss5701811326, ss5805354211, ss5854356111, ss5864678315	NC_000004.12:99290628:T:C	NC_000004.12:99290628:T:C	(self)
ss5600832, ss24363621, ss35072337, ss76859964, ss98986842, ss142944472, ss154283479, ss159460388, ss160664009, ss173692421	NT_016354.19:24759506:T:C	NC_000004.12:99290628:T:C	(self)
2179439721	NC_000004.12:99290628:T:G	NC_000004.12:99290628:T:G	(self)

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

2 citations for rs4147532

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
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

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs4147532