Name: rs1800759
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.

rs1800759

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:99144358 (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: G=0.471102 (124696/264690, TOPMED)
T=0.419883 (84535/201330, ALFA)
G=0.481811 (67441/139974, GnomAD) (+ 23 more)
G=0.42465 (33418/78696, PAGE_STUDY)
T=0.15528 (4388/28258, 14KJPN)
T=0.15251 (2556/16760, 8.3KJPN)
T=0.4553 (2916/6404, 1000G_30x)
T=0.4379 (2193/5008, 1000G)
T=0.3967 (1777/4480, Estonian)
T=0.3887 (1498/3854, ALSPAC)
T=0.4037 (1497/3708, TWINSUK)
T=0.1956 (573/2930, KOREAN)
T=0.4872 (916/1880, HapMap)
T=0.1878 (344/1832, Korea1K)
T=0.3495 (397/1136, Daghestan)
T=0.386 (385/998, GoNL)
T=0.193 (152/786, PRJEB37584)
T=0.465 (279/600, NorthernSweden)
T=0.393 (210/534, MGP)
T=0.234 (102/436, SGDP_PRJ)
T=0.385 (137/356, PharmGKB)
G=0.454 (98/216, Qatari)
T=0.065 (14/216, Vietnamese)
G=0.38 (18/48, Ancient Sardinia)
T=0.42 (17/40, GENOME_DK)
T=0.35 (14/40, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ADH4 : 2KB Upstream Variant
LOC100507053 : Intron Variant
Publications: 22 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	201330	T=0.419883	G=0.580117	0.18641	0.346645	0.466945	32
European	Sub	170882	T=0.399966	G=0.600034	0.161257	0.361325	0.477417	2
African	Sub	10148	T=0.75729	G=0.24271	0.576074	0.06149	0.362436	1
African Others	Sub	346	T=0.838	G=0.162	0.722543	0.046243	0.231214	2
African American	Sub	9802	T=0.7544	G=0.2456	0.570904	0.062028	0.367068	0
Asian	Sub	738	T=0.136	G=0.864	0.02168	0.750678	0.227642	0
East Asian	Sub	592	T=0.142	G=0.858	0.023649	0.739865	0.236486	0
Other Asian	Sub	146	T=0.110	G=0.890	0.013699	0.794521	0.191781	0
Latin American 1	Sub	842	T=0.521	G=0.479	0.27791	0.235154	0.486936	0
Latin American 2	Sub	6872	T=0.5797	G=0.4203	0.334109	0.174622	0.491269	0
South Asian	Sub	5048	T=0.1965	G=0.8035	0.04477	0.651743	0.303487	2
Other	Sub	6800	T=0.4394	G=0.5606	0.199412	0.320588	0.48	2

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=0.528898	G=0.471102
Allele Frequency Aggregator	Total	Global	201330	T=0.419883	G=0.580117
Allele Frequency Aggregator	European	Sub	170882	T=0.399966	G=0.600034
Allele Frequency Aggregator	African	Sub	10148	T=0.75729	G=0.24271
Allele Frequency Aggregator	Latin American 2	Sub	6872	T=0.5797	G=0.4203
Allele Frequency Aggregator	Other	Sub	6800	T=0.4394	G=0.5606
Allele Frequency Aggregator	South Asian	Sub	5048	T=0.1965	G=0.8035
Allele Frequency Aggregator	Latin American 1	Sub	842	T=0.521	G=0.479
Allele Frequency Aggregator	Asian	Sub	738	T=0.136	G=0.864
gnomAD - Genomes	Global	Study-wide	139974	T=0.518189	G=0.481811
gnomAD - Genomes	European	Sub	75808	T=0.39765	G=0.60235
gnomAD - Genomes	African	Sub	41944	T=0.76485	G=0.23515
gnomAD - Genomes	American	Sub	13622	T=0.54331	G=0.45669
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	T=0.4214	G=0.5786
gnomAD - Genomes	East Asian	Sub	3130	T=0.1339	G=0.8661
gnomAD - Genomes	Other	Sub	2150	T=0.5060	G=0.4940
The PAGE Study	Global	Study-wide	78696	T=0.57535	G=0.42465
The PAGE Study	AfricanAmerican	Sub	32512	T=0.75348	G=0.24652
The PAGE Study	Mexican	Sub	10808	T=0.57180	G=0.42820
The PAGE Study	Asian	Sub	8318	T=0.1458	G=0.8542
The PAGE Study	PuertoRican	Sub	7918	T=0.5828	G=0.4172
The PAGE Study	NativeHawaiian	Sub	4534	T=0.2031	G=0.7969
The PAGE Study	Cuban	Sub	4230	T=0.4879	G=0.5121
The PAGE Study	Dominican	Sub	3828	T=0.6055	G=0.3945
The PAGE Study	CentralAmerican	Sub	2450	T=0.5927	G=0.4073
The PAGE Study	SouthAmerican	Sub	1982	T=0.6221	G=0.3779
The PAGE Study	NativeAmerican	Sub	1260	T=0.5016	G=0.4984
The PAGE Study	SouthAsian	Sub	856	T=0.179	G=0.821
14KJPN	JAPANESE	Study-wide	28258	T=0.15528	G=0.84472
8.3KJPN	JAPANESE	Study-wide	16760	T=0.15251	G=0.84749
1000Genomes_30x	Global	Study-wide	6404	T=0.4553	G=0.5447
1000Genomes_30x	African	Sub	1786	T=0.8203	G=0.1797
1000Genomes_30x	Europe	Sub	1266	T=0.4005	G=0.5995
1000Genomes_30x	South Asian	Sub	1202	T=0.1589	G=0.8411
1000Genomes_30x	East Asian	Sub	1170	T=0.1487	G=0.8513
1000Genomes_30x	American	Sub	980	T=0.591	G=0.409
1000Genomes	Global	Study-wide	5008	T=0.4379	G=0.5621
1000Genomes	African	Sub	1322	T=0.8222	G=0.1778
1000Genomes	East Asian	Sub	1008	T=0.1448	G=0.8552
1000Genomes	Europe	Sub	1006	T=0.3956	G=0.6044
1000Genomes	South Asian	Sub	978	T=0.157	G=0.843
1000Genomes	American	Sub	694	T=0.588	G=0.412
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.3967	G=0.6033
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.3887	G=0.6113
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.4037	G=0.5963
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.1956	C=0.0000, G=0.8044
HapMap	Global	Study-wide	1880	T=0.4872	G=0.5128
HapMap	American	Sub	764	T=0.332	G=0.668
HapMap	African	Sub	692	T=0.786	G=0.214
HapMap	Asian	Sub	248	T=0.177	G=0.823
HapMap	Europe	Sub	176	T=0.420	G=0.580
Korean Genome Project	KOREAN	Study-wide	1832	T=0.1878	G=0.8122
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	T=0.3495	G=0.6505
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	T=0.390	G=0.610
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=0.312	G=0.688
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.262	G=0.738
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.398	G=0.602
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	T=0.16	G=0.84
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.44	G=0.56
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.386	G=0.614
CNV burdens in cranial meningiomas	Global	Study-wide	786	T=0.193	G=0.807
CNV burdens in cranial meningiomas	CRM	Sub	786	T=0.193	G=0.807
Northern Sweden	ACPOP	Study-wide	600	T=0.465	G=0.535
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.393	G=0.607
SGDP_PRJ	Global	Study-wide	436	T=0.234	G=0.766
PharmGKB Aggregated	Global	Study-wide	356	T=0.385	G=0.615
PharmGKB Aggregated	PA149391594	Sub	356	T=0.385	G=0.615
Qatari	Global	Study-wide	216	T=0.546	G=0.454
A Vietnamese Genetic Variation Database	Global	Study-wide	216	T=0.065	G=0.935
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	48	T=0.62	G=0.38
The Danish reference pan genome	Danish	Study-wide	40	T=0.42	G=0.57
Siberian	Global	Study-wide	40	T=0.35	G=0.65

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.99144358T>C
GRCh38.p14 chr 4	NC_000004.12:g.99144358T>G
GRCh37.p13 chr 4	NC_000004.11:g.100065509T>C
GRCh37.p13 chr 4	NC_000004.11:g.100065509T>G
LOC111216288 genomic region	NG_055570.1:g.190T>C
LOC111216288 genomic region	NG_055570.1:g.190T>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=	C	G
GRCh38.p14 chr 4	NC_000004.12:g.99144358=	NC_000004.12:g.99144358T>C	NC_000004.12:g.99144358T>G
GRCh37.p13 chr 4	NC_000004.11:g.100065509=	NC_000004.11:g.100065509T>C	NC_000004.11:g.100065509T>G
LOC111216288 genomic region	NG_055570.1:g.190=	NG_055570.1:g.190T>C	NG_055570.1:g.190T>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#.

129 SubSNP, 26 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGBASE	ss2420886	Nov 14, 2000 (89)
2	RIKENSNPRC	ss5603220	Dec 12, 2002 (110)
3	EGP_SNPS	ss35527932	May 25, 2005 (125)
4	ABI	ss44508694	Mar 13, 2006 (126)
5	IMCJ-GDT	ss46563533	Mar 13, 2006 (126)
6	ILLUMINA	ss65758043	Oct 13, 2006 (127)
7	ILLUMINA	ss74855882	Dec 06, 2007 (129)
8	CGM_KYOTO	ss76860066	Dec 06, 2007 (129)
9	HGSV	ss83359677	Dec 15, 2007 (130)
10	PHARMGKB_AB_DME	ss84160793	Dec 15, 2007 (130)
11	BCMHGSC_JDW	ss92702995	Mar 24, 2008 (129)
12	HUMANGENOME_JCVI	ss98986729	Feb 05, 2009 (130)
13	BGI	ss104098927	Dec 01, 2009 (131)
14	SNP500CANCER	ss105439646	Feb 05, 2009 (130)
15	1000GENOMES	ss108170346	Jan 23, 2009 (130)
16	KRIBB_YJKIM	ss119403964	Dec 01, 2009 (131)
17	ENSEMBL	ss139781781	Dec 01, 2009 (131)
18	ILLUMINA	ss153736478	Dec 01, 2009 (131)
19	GMI	ss157649914	Dec 01, 2009 (131)
20	ILLUMINA	ss159329761	Dec 01, 2009 (131)
21	ILLUMINA	ss160462900	Dec 01, 2009 (131)
22	COMPLETE_GENOMICS	ss166943177	Jul 04, 2010 (132)
23	ILLUMINA	ss172925012	Jul 04, 2010 (132)
24	BUSHMAN	ss198920499	Jul 04, 2010 (132)
25	BCM-HGSC-SUB	ss206267936	Jul 04, 2010 (132)
26	1000GENOMES	ss211458041	Jul 14, 2010 (132)
27	1000GENOMES	ss221098470	Jul 14, 2010 (132)
28	1000GENOMES	ss232514853	Jul 14, 2010 (132)
29	1000GENOMES	ss239779994	Jul 15, 2010 (132)
30	BL	ss253371338	May 09, 2011 (134)
31	GMI	ss277844125	May 04, 2012 (137)
32	PJP	ss293147352	May 09, 2011 (134)
33	ILLUMINA	ss480300644	May 04, 2012 (137)
34	ILLUMINA	ss480311749	May 04, 2012 (137)
35	ILLUMINA	ss481067392	Sep 08, 2015 (146)
36	ILLUMINA	ss484948134	May 04, 2012 (137)
37	ILLUMINA	ss536992357	Sep 08, 2015 (146)
38	TISHKOFF	ss557720739	Apr 25, 2013 (138)
39	SSMP	ss651525330	Apr 25, 2013 (138)
40	ILLUMINA	ss778841521	Sep 08, 2015 (146)
41	ILLUMINA	ss782920375	Sep 08, 2015 (146)
42	ILLUMINA	ss783883406	Sep 08, 2015 (146)
43	ILLUMINA	ss832175500	Sep 08, 2015 (146)
44	ILLUMINA	ss832841770	Jul 13, 2019 (153)
45	ILLUMINA	ss834302078	Sep 08, 2015 (146)
46	EVA-GONL	ss980449368	Aug 21, 2014 (142)
47	JMKIDD_LAB	ss1071786664	Aug 21, 2014 (142)
48	1000GENOMES	ss1310977474	Aug 21, 2014 (142)
49	HAMMER_LAB	ss1397383464	Sep 08, 2015 (146)
50	DDI	ss1429982458	Apr 01, 2015 (144)
51	EVA_GENOME_DK	ss1580687128	Apr 01, 2015 (144)
52	EVA_DECODE	ss1589953374	Apr 01, 2015 (144)
53	EVA_UK10K_ALSPAC	ss1610734918	Apr 01, 2015 (144)
54	EVA_UK10K_TWINSUK	ss1653728951	Apr 01, 2015 (144)
55	EVA_MGP	ss1711067154	Apr 01, 2015 (144)
56	EVA_SVP	ss1712693058	Apr 01, 2015 (144)
57	ILLUMINA	ss1752489107	Sep 08, 2015 (146)
58	HAMMER_LAB	ss1801908235	Sep 08, 2015 (146)
59	WEILL_CORNELL_DGM	ss1923689548	Feb 12, 2016 (147)
60	ILLUMINA	ss1958706795	Feb 12, 2016 (147)
61	JJLAB	ss2022430691	Sep 14, 2016 (149)
62	USC_VALOUEV	ss2150559847	Dec 20, 2016 (150)
63	HUMAN_LONGEVITY	ss2265420067	Dec 20, 2016 (150)
64	SYSTEMSBIOZJU	ss2625714325	Nov 08, 2017 (151)
65	ILLUMINA	ss2634154418	Nov 08, 2017 (151)
66	GRF	ss2706036807	Nov 08, 2017 (151)
67	GNOMAD	ss2812847195	Nov 08, 2017 (151)
68	AFFY	ss2985926594	Nov 08, 2017 (151)
69	SWEGEN	ss2995209433	Nov 08, 2017 (151)
70	ILLUMINA	ss3022398451	Nov 08, 2017 (151)
71	BIOINF_KMB_FNS_UNIBA	ss3024990594	Nov 08, 2017 (151)
72	CSHL	ss3345861492	Nov 08, 2017 (151)
73	ILLUMINA	ss3629025383	Oct 12, 2018 (152)
74	ILLUMINA	ss3632088798	Oct 12, 2018 (152)
75	ILLUMINA	ss3633343273	Oct 12, 2018 (152)
76	ILLUMINA	ss3634062574	Oct 12, 2018 (152)
77	ILLUMINA	ss3634963360	Oct 12, 2018 (152)
78	ILLUMINA	ss3635745302	Oct 12, 2018 (152)
79	ILLUMINA	ss3636667678	Oct 12, 2018 (152)
80	ILLUMINA	ss3637497839	Oct 12, 2018 (152)
81	ILLUMINA	ss3638501659	Oct 12, 2018 (152)
82	ILLUMINA	ss3640670654	Oct 12, 2018 (152)
83	ILLUMINA	ss3641165750	Oct 12, 2018 (152)
84	ILLUMINA	ss3641462628	Oct 12, 2018 (152)
85	ILLUMINA	ss3643451845	Oct 12, 2018 (152)
86	OMUKHERJEE_ADBS	ss3646310647	Oct 12, 2018 (152)
87	URBANLAB	ss3647802432	Oct 12, 2018 (152)
88	ILLUMINA	ss3652884688	Oct 12, 2018 (152)
89	EGCUT_WGS	ss3663105141	Jul 13, 2019 (153)
90	EVA_DECODE	ss3712655632	Jul 13, 2019 (153)
91	ILLUMINA	ss3726155576	Jul 13, 2019 (153)
92	ACPOP	ss3731421213	Jul 13, 2019 (153)
93	ILLUMINA	ss3745263621	Jul 13, 2019 (153)
94	EVA	ss3762166447	Jul 13, 2019 (153)
95	PAGE_CC	ss3771142513	Jul 13, 2019 (153)
96	ILLUMINA	ss3772758161	Jul 13, 2019 (153)
97	KHV_HUMAN_GENOMES	ss3805314818	Jul 13, 2019 (153)
98	EVA	ss3828703181	Apr 26, 2020 (154)
99	EVA	ss3837792592	Apr 26, 2020 (154)
100	EVA	ss3843230973	Apr 26, 2020 (154)
101	SGDP_PRJ	ss3859609392	Apr 26, 2020 (154)
102	KRGDB	ss3905886771	Apr 26, 2020 (154)
103	KOGIC	ss3954741292	Apr 26, 2020 (154)
104	FSA-LAB	ss3984289889	Apr 26, 2021 (155)
105	FSA-LAB	ss3984289890	Apr 26, 2021 (155)
106	EVA	ss3984532234	Apr 26, 2021 (155)
107	EVA	ss3985085313	Apr 26, 2021 (155)
108	EVA	ss3986287197	Apr 26, 2021 (155)
109	EVA	ss4017159499	Apr 26, 2021 (155)
110	TOPMED	ss4624616883	Apr 26, 2021 (155)
111	TOMMO_GENOMICS	ss5167075889	Apr 26, 2021 (155)
112	EVA	ss5237182981	Apr 26, 2021 (155)
113	1000G_HIGH_COVERAGE	ss5260286636	Oct 13, 2022 (156)
114	EVA	ss5314977490	Oct 13, 2022 (156)
115	EVA	ss5350972676	Oct 13, 2022 (156)
116	HUGCELL_USP	ss5458929231	Oct 13, 2022 (156)
117	EVA	ss5507641155	Oct 13, 2022 (156)
118	1000G_HIGH_COVERAGE	ss5541953269	Oct 13, 2022 (156)
119	EVA	ss5624141312	Oct 13, 2022 (156)
120	SANFORD_IMAGENETICS	ss5635664497	Oct 13, 2022 (156)
121	TOMMO_GENOMICS	ss5701806306	Oct 13, 2022 (156)
122	EVA	ss5799622209	Oct 13, 2022 (156)
123	EVA	ss5800117008	Oct 13, 2022 (156)
124	YY_MCH	ss5805353586	Oct 13, 2022 (156)
125	EVA	ss5844423317	Oct 13, 2022 (156)
126	EVA	ss5848613592	Oct 13, 2022 (156)
127	EVA	ss5854355741	Oct 13, 2022 (156)
128	EVA	ss5936525364	Oct 13, 2022 (156)
129	EVA	ss5964055079	Oct 13, 2022 (156)
130	1000Genomes	NC_000004.11 - 100065509	Oct 12, 2018 (152)
131	1000Genomes_30x	NC_000004.12 - 99144358	Oct 13, 2022 (156)
132	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 100065509	Oct 12, 2018 (152)
133	Genome-wide autozygosity in Daghestan	NC_000004.10 - 100284532	Apr 26, 2020 (154)
134	Genetic variation in the Estonian population	NC_000004.11 - 100065509	Oct 12, 2018 (152)
135	The Danish reference pan genome	NC_000004.11 - 100065509	Apr 26, 2020 (154)
136	gnomAD - Genomes	NC_000004.12 - 99144358	Apr 26, 2021 (155)
137	Genome of the Netherlands Release 5	NC_000004.11 - 100065509	Apr 26, 2020 (154)
138	HapMap	NC_000004.12 - 99144358	Apr 26, 2020 (154)
139	KOREAN population from KRGDB	NC_000004.11 - 100065509	Apr 26, 2020 (154)
140	Korean Genome Project	NC_000004.12 - 99144358	Apr 26, 2020 (154)
141	Medical Genome Project healthy controls from Spanish population	NC_000004.11 - 100065509	Apr 26, 2020 (154)
142	Northern Sweden	NC_000004.11 - 100065509	Jul 13, 2019 (153)
143	The PAGE Study	NC_000004.12 - 99144358	Jul 13, 2019 (153)
144	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000004.11 - 100065509	Apr 26, 2021 (155)
145	CNV burdens in cranial meningiomas	NC_000004.11 - 100065509	Apr 26, 2021 (155)
146	PharmGKB Aggregated	NC_000004.12 - 99144358	Apr 26, 2020 (154)
147	Qatari	NC_000004.11 - 100065509	Apr 26, 2020 (154)
148	SGDP_PRJ	NC_000004.11 - 100065509	Apr 26, 2020 (154)
149	Siberian	NC_000004.11 - 100065509	Apr 26, 2020 (154)
150	8.3KJPN	NC_000004.11 - 100065509	Apr 26, 2021 (155)
151	14KJPN	NC_000004.12 - 99144358	Oct 13, 2022 (156)
152	TopMed	NC_000004.12 - 99144358	Apr 26, 2021 (155)
153	UK 10K study - Twins	NC_000004.11 - 100065509	Oct 12, 2018 (152)
154	A Vietnamese Genetic Variation Database	NC_000004.11 - 100065509	Jul 13, 2019 (153)
155	ALFA	NC_000004.12 - 99144358	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)
rs59287380	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
13064165, ss3905886771	NC_000004.11:100065508:T:C	NC_000004.12:99144357:T:C	(self)
ss83359677	NC_000004.9:100422686:T:G	NC_000004.12:99144357:T:G	(self)
358867, ss92702995, ss108170346, ss166943177, ss198920499, ss206267936, ss211458041, ss253371338, ss277844125, ss293147352, ss480300644, ss1397383464, ss1589953374, ss1712693058, ss3643451845	NC_000004.10:100284531:T:G	NC_000004.12:99144357:T:G	(self)
22419579, 12470974, 8843389, 6852067, 5512856, 13064165, 182914, 4706078, 311240, 81594, 5731478, 11626372, 3076201, 25045196, 12470974, 2744099, ss221098470, ss232514853, ss239779994, ss480311749, ss481067392, ss484948134, ss536992357, ss557720739, ss651525330, ss778841521, ss782920375, ss783883406, ss832175500, ss832841770, ss834302078, ss980449368, ss1071786664, ss1310977474, ss1429982458, ss1580687128, ss1610734918, ss1653728951, ss1711067154, ss1752489107, ss1801908235, ss1923689548, ss1958706795, ss2022430691, ss2150559847, ss2625714325, ss2634154418, ss2706036807, ss2812847195, ss2985926594, ss2995209433, ss3022398451, ss3345861492, ss3629025383, ss3632088798, ss3633343273, ss3634062574, ss3634963360, ss3635745302, ss3636667678, ss3637497839, ss3638501659, ss3640670654, ss3641165750, ss3641462628, ss3646310647, ss3652884688, ss3663105141, ss3731421213, ss3745263621, ss3762166447, ss3772758161, ss3828703181, ss3837792592, ss3859609392, ss3905886771, ss3984289889, ss3984289890, ss3984532234, ss3985085313, ss3986287197, ss4017159499, ss5167075889, ss5314977490, ss5350972676, ss5507641155, ss5624141312, ss5635664497, ss5799622209, ss5800117008, ss5844423317, ss5848613592, ss5936525364, ss5964055079	NC_000004.11:100065508:T:G	NC_000004.12:99144357:T:G	(self)
29479204, 158814838, 2670170, 11119293, 363982, 9667, 35643410, 461994439, 14924707040, ss2265420067, ss3024990594, ss3647802432, ss3712655632, ss3726155576, ss3771142513, ss3805314818, ss3843230973, ss3954741292, ss4624616883, ss5237182981, ss5260286636, ss5458929231, ss5541953269, ss5701806306, ss5805353586, ss5854355741	NC_000004.12:99144357:T:G	NC_000004.12:99144357:T:G	(self)
ss2420886, ss5603220, ss35527932, ss44508694, ss46563533, ss65758043, ss74855882, ss76860066, ss84160793, ss98986729, ss104098927, ss105439646, ss119403964, ss139781781, ss153736478, ss157649914, ss159329761, ss160462900, ss172925012	NT_016354.19:24613229:T:G	NC_000004.12:99144357:T:G	(self)

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

22 citations for rs1800759

PMID	Title	Author	Year	Journal
16237392	ADH4 gene variation is associated with alcohol dependence and drug dependence in European Americans: results from HWD tests and case-control association studies.	Luo X et al.	2006	Neuropsychopharmacology
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
17069770	Personality traits of agreeableness and extraversion are associated with ADH4 variation.	Luo X et al.	2007	Biological psychiatry
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
18801187	Recessive genetic mode of an ADH4 variant in substance dependence in African-Americans: A model of utility of the HWD test.	Luo X et al.	2008	Behavioral and brain functions
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
19925625	Cluster headache is associated with the alcohol dehydrogenase 4 (ADH4) gene.	Rainero I et al.	2010	Headache
20363298	Identification of a FOXA-dependent enhancer of human alcohol dehydrogenase 4 (ADH4).	Pochareddy S et al.	2010	Gene
20626721	Association of ADH4 genetic variants with alcohol dependence risk and related phenotypes: results from a larger multicenter association study.	Preuss UW et al.	2011	Addiction biology
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
24889829	Identification of methylation quantitative trait loci (mQTLs) influencing promoter DNA methylation of alcohol dependence risk genes.	Zhang H et al.	2014	Human genetics
26044620	Gene network analysis shows immune-signaling and ERK1/2 as novel genetic markers for multiple addiction phenotypes: alcohol, smoking and opioid addiction.	Reyes-Gibby CC et al.	2015	BMC systems biology
27041676	Screening of Two ADH4 Variations in a Swedish Cluster Headache Case-Control Material.	Fourier C et al.	2016	Headache
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
28805974	Effect of single-nucleotide polymorphisms in ADH1B, ADH4, ADH1C, OPRM1, DRD2, BDNF, and ALDH2 genes on alcohol dependence in a Caucasian population.	Katsarou MS et al.	2017	Pharmacology research & perspectives
29318394	Genetic association of HCRTR2, ADH4 and CLOCK genes with cluster headache: a Chinese population-based case-control study.	Fan Z et al.	2018	The journal of headache and pain
31768945	Analysis of HCRTR2, GNB3, and ADH4 Gene Polymorphisms in a Southeastern European Caucasian Cluster Headache Population.	Papasavva M et al.	2020	Journal of molecular neuroscience
34309832	Gene polymorphism association studies in cluster headache: A field synopsis and systematic meta-analyses.	Cargnin S et al.	2021	Headache
35437765	No significant association between SNPs in the CLOCK and ADH4 genes and susceptibility to cluster headaches: A systematic review and meta-analysis.	Cui J et al.	2022	Annals of human genetics

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

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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).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1800759