Name: rs7776426
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.

rs7776426

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:129831375 (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: A>C / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.449971 (168552/374584, ALFA)
C=0.345612 (91480/264690, TOPMED)
C=0.366945 (51387/140040, GnomAD) (+ 25 more)
C=0.367413 (44285/120532, ExAC)
C=0.24011 (18896/78696, PAGE_STUDY)
C=0.12627 (3568/28258, 14KJPN)
C=0.12936 (2168/16760, 8.3KJPN)
C=0.39995 (5201/13004, GO-ESP)
C=0.2406 (1541/6404, 1000G_30x)
C=0.2426 (1215/5008, 1000G)
C=0.4616 (2068/4480, Estonian)
C=0.4933 (1901/3854, ALSPAC)
C=0.4755 (1763/3708, TWINSUK)
C=0.1253 (367/2930, KOREAN)
C=0.2404 (501/2084, HGDP_Stanford)
C=0.2524 (476/1886, HapMap)
C=0.1283 (235/1832, Korea1K)
C=0.3750 (417/1112, Daghestan)
A=0.499 (498/998, GoNL)
C=0.132 (81/614, Vietnamese)
C=0.468 (281/600, NorthernSweden)
C=0.448 (239/534, MGP)
C=0.355 (108/304, FINRISK)
A=0.411 (92/224, SGDP_PRJ)
C=0.269 (58/216, Qatari)
A=0.41 (22/54, Ancient Sardinia)
A=0.45 (18/40, GENOME_DK)
A=0.46 (13/28, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TMEM244 : Missense Variant
Publications: 0 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	390926	A=0.552015	C=0.447985
European	Sub	329788	A=0.523670	C=0.476330
African	Sub	16316	A=0.76054	C=0.23946
African Others	Sub	592	A=0.802	C=0.198
African American	Sub	15724	A=0.75897	C=0.24103
Asian	Sub	6980	A=0.8696	C=0.1304
East Asian	Sub	5012	A=0.8751	C=0.1249
Other Asian	Sub	1968	A=0.8557	C=0.1443
Latin American 1	Sub	1486	A=0.6635	C=0.3365
Latin American 2	Sub	7206	A=0.7673	C=0.2327
South Asian	Sub	5226	A=0.7302	C=0.2698
Other	Sub	23924	A=0.59718	C=0.40282

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
Allele Frequency Aggregator	Total	Global	374584	A=0.550029	C=0.449971
Allele Frequency Aggregator	European	Sub	319666	A=0.523625	C=0.476375
Allele Frequency Aggregator	Other	Sub	22486	A=0.59971	C=0.40029
Allele Frequency Aggregator	African	Sub	11534	A=0.75958	C=0.24042
Allele Frequency Aggregator	Latin American 2	Sub	7206	A=0.7673	C=0.2327
Allele Frequency Aggregator	Asian	Sub	6980	A=0.8696	C=0.1304
Allele Frequency Aggregator	South Asian	Sub	5226	A=0.7302	C=0.2698
Allele Frequency Aggregator	Latin American 1	Sub	1486	A=0.6635	C=0.3365
TopMed	Global	Study-wide	264690	A=0.654388	C=0.345612
gnomAD - Genomes	Global	Study-wide	140040	A=0.633055	C=0.366945
gnomAD - Genomes	European	Sub	75826	A=0.53413	C=0.46587
gnomAD - Genomes	African	Sub	41984	A=0.76877	C=0.23123
gnomAD - Genomes	American	Sub	13642	A=0.71632	C=0.28368
gnomAD - Genomes	Ashkenazi Jewish	Sub	3312	A=0.6063	C=0.3937
gnomAD - Genomes	East Asian	Sub	3122	A=0.8652	C=0.1348
gnomAD - Genomes	Other	Sub	2154	A=0.6476	C=0.3524
ExAC	Global	Study-wide	120532	A=0.632587	C=0.367413
ExAC	Europe	Sub	72970	A=0.53219	C=0.46781
ExAC	Asian	Sub	24958	A=0.78472	C=0.21528
ExAC	American	Sub	11474	A=0.81741	C=0.18259
ExAC	African	Sub	10236	A=0.77003	C=0.22997
ExAC	Other	Sub	894	A=0.634	C=0.366
The PAGE Study	Global	Study-wide	78696	A=0.75989	C=0.24011
The PAGE Study	AfricanAmerican	Sub	32510	A=0.76340	C=0.23660
The PAGE Study	Mexican	Sub	10810	A=0.77743	C=0.22257
The PAGE Study	Asian	Sub	8318	A=0.8627	C=0.1373
The PAGE Study	PuertoRican	Sub	7918	A=0.7048	C=0.2952
The PAGE Study	NativeHawaiian	Sub	4534	A=0.8262	C=0.1738
The PAGE Study	Cuban	Sub	4230	A=0.5993	C=0.4007
The PAGE Study	Dominican	Sub	3828	A=0.6899	C=0.3101
The PAGE Study	CentralAmerican	Sub	2450	A=0.7906	C=0.2094
The PAGE Study	SouthAmerican	Sub	1982	A=0.7619	C=0.2381
The PAGE Study	NativeAmerican	Sub	1260	A=0.6429	C=0.3571
The PAGE Study	SouthAsian	Sub	856	A=0.750	C=0.250
14KJPN	JAPANESE	Study-wide	28258	A=0.87373	C=0.12627
8.3KJPN	JAPANESE	Study-wide	16760	A=0.87064	C=0.12936
GO Exome Sequencing Project	Global	Study-wide	13004	A=0.60005	C=0.39995
GO Exome Sequencing Project	European American	Sub	8600	A=0.5237	C=0.4763
GO Exome Sequencing Project	African American	Sub	4404	A=0.7491	C=0.2509
1000Genomes_30x	Global	Study-wide	6404	A=0.7594	C=0.2406
1000Genomes_30x	African	Sub	1786	A=0.8219	C=0.1781
1000Genomes_30x	Europe	Sub	1266	A=0.5403	C=0.4597
1000Genomes_30x	South Asian	Sub	1202	A=0.7945	C=0.2055
1000Genomes_30x	East Asian	Sub	1170	A=0.8675	C=0.1325
1000Genomes_30x	American	Sub	980	A=0.756	C=0.244
1000Genomes	Global	Study-wide	5008	A=0.7574	C=0.2426
1000Genomes	African	Sub	1322	A=0.8177	C=0.1823
1000Genomes	East Asian	Sub	1008	A=0.8641	C=0.1359
1000Genomes	Europe	Sub	1006	A=0.5417	C=0.4583
1000Genomes	South Asian	Sub	978	A=0.789	C=0.211
1000Genomes	American	Sub	694	A=0.755	C=0.245
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.5384	C=0.4616
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.5067	C=0.4933
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.5245	C=0.4755
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.8747	C=0.1253
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.7596	C=0.2404
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.855	C=0.145
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.717	C=0.283
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.680	C=0.320
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.519	C=0.481
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.897	C=0.103
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.977	C=0.023
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.72	C=0.28
HapMap	Global	Study-wide	1886	A=0.7476	C=0.2524
HapMap	American	Sub	770	A=0.723	C=0.277
HapMap	African	Sub	688	A=0.782	C=0.218
HapMap	Asian	Sub	254	A=0.890	C=0.110
HapMap	Europe	Sub	174	A=0.511	C=0.489
Korean Genome Project	KOREAN	Study-wide	1832	A=0.8717	C=0.1283
Genome-wide autozygosity in Daghestan	Global	Study-wide	1112	A=0.6250	C=0.3750
Genome-wide autozygosity in Daghestan	Daghestan	Sub	616	A=0.594	C=0.406
Genome-wide autozygosity in Daghestan	Near_East	Sub	142	A=0.669	C=0.331
Genome-wide autozygosity in Daghestan	Central Asia	Sub	118	A=0.712	C=0.288
Genome-wide autozygosity in Daghestan	Europe	Sub	104	A=0.558	C=0.442
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	A=0.79	C=0.21
Genome-wide autozygosity in Daghestan	Caucasus	Sub	34	A=0.44	C=0.56
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.499	C=0.501
A Vietnamese Genetic Variation Database	Global	Study-wide	614	A=0.868	C=0.132
Northern Sweden	ACPOP	Study-wide	600	A=0.532	C=0.468
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	A=0.552	C=0.448
FINRISK	Finnish from FINRISK project	Study-wide	304	A=0.645	C=0.355
SGDP_PRJ	Global	Study-wide	224	A=0.411	C=0.589
Qatari	Global	Study-wide	216	A=0.731	C=0.269
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	54	A=0.41	C=0.59
The Danish reference pan genome	Danish	Study-wide	40	A=0.45	C=0.55
Siberian	Global	Study-wide	28	A=0.46	C=0.54

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 6	NC_000006.12:g.129831375A>C
GRCh38.p14 chr 6	NC_000006.12:g.129831375A>T
GRCh37.p13 chr 6	NC_000006.11:g.130152520A>C
GRCh37.p13 chr 6	NC_000006.11:g.130152520A>T

Gene: TMEM244, transmembrane protein 244 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TMEM244 transcript	NM_001010876.2:c.331T>G	F [TTC] > V [GTC]	Coding Sequence Variant
putative transmembrane protein 244	NP_001010876.1:p.Phe111Val	F (Phe) > V (Val)	Missense Variant
TMEM244 transcript	NM_001010876.2:c.331T>A	F [TTC] > I [ATC]	Coding Sequence Variant
putative transmembrane protein 244	NP_001010876.1:p.Phe111Ile	F (Phe) > I (Ile)	Missense 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	A=	C	T
GRCh38.p14 chr 6	NC_000006.12:g.129831375=	NC_000006.12:g.129831375A>C	NC_000006.12:g.129831375A>T
GRCh37.p13 chr 6	NC_000006.11:g.130152520=	NC_000006.11:g.130152520A>C	NC_000006.11:g.130152520A>T
TMEM244 transcript	NM_001010876.2:c.331=	NM_001010876.2:c.331T>G	NM_001010876.2:c.331T>A
TMEM244 transcript	NM_001010876.1:c.331=	NM_001010876.1:c.331T>G	NM_001010876.1:c.331T>A
putative transmembrane protein 244	NP_001010876.1:p.Phe111=	NP_001010876.1:p.Phe111Val	NP_001010876.1:p.Phe111Ile

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#.

182 SubSNP, 30 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss11842509	Jul 11, 2003 (116)
2	CSHL-HAPMAP	ss17134443	Feb 27, 2004 (120)
3	SSAHASNP	ss22429214	Apr 05, 2004 (121)
4	PERLEGEN	ss24446655	Sep 20, 2004 (123)
5	ABI	ss44710580	Mar 14, 2006 (126)
6	ILLUMINA	ss65773673	Oct 14, 2006 (127)
7	ILLUMINA	ss66547245	Nov 29, 2006 (127)
8	ILLUMINA	ss67829356	Nov 29, 2006 (127)
9	ILLUMINA	ss67990429	Nov 29, 2006 (127)
10	PERLEGEN	ss68991178	May 16, 2007 (127)
11	ILLUMINA	ss70949168	May 24, 2008 (130)
12	ILLUMINA	ss71554962	May 16, 2007 (127)
13	AFFY	ss74810583	Aug 16, 2007 (128)
14	ILLUMINA	ss75743245	Dec 06, 2007 (129)
15	SI_EXO	ss76890304	Dec 06, 2007 (129)
16	ILLUMINA	ss79269609	Dec 15, 2007 (130)
17	KRIBB_YJKIM	ss84723402	Dec 15, 2007 (130)
18	BCMHGSC_JDW	ss93559722	Mar 24, 2008 (129)
19	HUMANGENOME_JCVI	ss98431648	Feb 05, 2009 (130)
20	1000GENOMES	ss110916339	Jan 25, 2009 (130)
21	ILLUMINA	ss122831965	Dec 01, 2009 (131)
22	ENSEMBL	ss144172887	Dec 01, 2009 (131)
23	ENSEMBL	ss144304763	Dec 01, 2009 (131)
24	ILLUMINA	ss154446555	Dec 01, 2009 (131)
25	ILLUMINA	ss159621358	Dec 01, 2009 (131)
26	SEATTLESEQ	ss159713487	Dec 01, 2009 (131)
27	ILLUMINA	ss160913783	Dec 01, 2009 (131)
28	COMPLETE_GENOMICS	ss162813050	Jul 04, 2010 (132)
29	ILLUMINA	ss172345904	Jul 04, 2010 (132)
30	ILLUMINA	ss174542654	Jul 04, 2010 (132)
31	BCM-HGSC-SUB	ss207545016	Jul 04, 2010 (132)
32	1000GENOMES	ss211924749	Jul 14, 2010 (132)
33	1000GENOMES	ss222675272	Jul 14, 2010 (132)
34	1000GENOMES	ss233684108	Jul 15, 2010 (132)
35	1000GENOMES	ss240698120	Jul 15, 2010 (132)
36	GMI	ss279022235	May 04, 2012 (137)
37	GMI	ss285505187	Apr 25, 2013 (138)
38	PJP	ss293724437	May 09, 2011 (134)
39	NHLBI-ESP	ss342222655	May 09, 2011 (134)
40	ILLUMINA	ss481671929	May 04, 2012 (137)
41	ILLUMINA	ss481702675	May 04, 2012 (137)
42	ILLUMINA	ss482670210	Sep 08, 2015 (146)
43	ILLUMINA	ss485630607	May 04, 2012 (137)
44	1000GENOMES	ss490934117	May 04, 2012 (137)
45	EXOME_CHIP	ss491391525	May 04, 2012 (137)
46	CLINSEQ_SNP	ss491896340	May 04, 2012 (137)
47	ILLUMINA	ss537512833	Sep 08, 2015 (146)
48	TISHKOFF	ss559524255	Apr 25, 2013 (138)
49	SSMP	ss653765889	Apr 25, 2013 (138)
50	ILLUMINA	ss778985774	Aug 21, 2014 (142)
51	ILLUMINA	ss780853840	Aug 21, 2014 (142)
52	ILLUMINA	ss783260900	Aug 21, 2014 (142)
53	ILLUMINA	ss783537822	Aug 21, 2014 (142)
54	ILLUMINA	ss784214340	Aug 21, 2014 (142)
55	ILLUMINA	ss825600127	Apr 01, 2015 (144)
56	ILLUMINA	ss832521815	Apr 01, 2015 (144)
57	ILLUMINA	ss833132275	Aug 21, 2014 (142)
58	ILLUMINA	ss833723103	Aug 21, 2014 (142)
59	ILLUMINA	ss834447976	Aug 21, 2014 (142)
60	JMKIDD_LAB	ss974461976	Aug 21, 2014 (142)
61	EVA-GONL	ss983502962	Aug 21, 2014 (142)
62	JMKIDD_LAB	ss1067482808	Aug 21, 2014 (142)
63	JMKIDD_LAB	ss1074035912	Aug 21, 2014 (142)
64	1000GENOMES	ss1322284060	Aug 21, 2014 (142)
65	HAMMER_LAB	ss1397470885	Sep 08, 2015 (146)
66	DDI	ss1430896017	Apr 01, 2015 (144)
67	EVA_GENOME_DK	ss1581898472	Apr 01, 2015 (144)
68	EVA_FINRISK	ss1584049047	Apr 01, 2015 (144)
69	EVA_DECODE	ss1593071076	Apr 01, 2015 (144)
70	EVA_UK10K_ALSPAC	ss1616699708	Apr 01, 2015 (144)
71	EVA_UK10K_TWINSUK	ss1659693741	Apr 01, 2015 (144)
72	EVA_EXAC	ss1688493290	Apr 01, 2015 (144)
73	EVA_MGP	ss1711142847	Apr 01, 2015 (144)
74	EVA_SVP	ss1712900025	Apr 01, 2015 (144)
75	ILLUMINA	ss1752601208	Sep 08, 2015 (146)
76	ILLUMINA	ss1752601209	Sep 08, 2015 (146)
77	HAMMER_LAB	ss1804672179	Sep 08, 2015 (146)
78	ILLUMINA	ss1917810584	Feb 12, 2016 (147)
79	WEILL_CORNELL_DGM	ss1926746922	Feb 12, 2016 (147)
80	ILLUMINA	ss1946191140	Feb 12, 2016 (147)
81	ILLUMINA	ss1946191141	Feb 12, 2016 (147)
82	ILLUMINA	ss1958950379	Feb 12, 2016 (147)
83	ILLUMINA	ss1958950380	Feb 12, 2016 (147)
84	GENOMED	ss1970526413	Jul 19, 2016 (147)
85	JJLAB	ss2024029650	Sep 14, 2016 (149)
86	USC_VALOUEV	ss2152223608	Dec 20, 2016 (150)
87	HUMAN_LONGEVITY	ss2288413784	Dec 20, 2016 (150)
88	ILLUMINA	ss2634511095	Nov 08, 2017 (151)
89	GRF	ss2707854472	Nov 08, 2017 (151)
90	ILLUMINA	ss2711090566	Nov 08, 2017 (151)
91	GNOMAD	ss2736058261	Nov 08, 2017 (151)
92	GNOMAD	ss2747702141	Nov 08, 2017 (151)
93	GNOMAD	ss2845161080	Nov 08, 2017 (151)
94	AFFY	ss2985384511	Nov 08, 2017 (151)
95	SWEGEN	ss2999956731	Nov 08, 2017 (151)
96	ILLUMINA	ss3022666176	Nov 08, 2017 (151)
97	ILLUMINA	ss3022666177	Nov 08, 2017 (151)
98	EVA_SAMSUNG_MC	ss3023062477	Nov 08, 2017 (151)
99	BIOINF_KMB_FNS_UNIBA	ss3025808485	Nov 08, 2017 (151)
100	CSHL	ss3347229891	Nov 08, 2017 (151)
101	ILLUMINA	ss3625913729	Oct 12, 2018 (152)
102	ILLUMINA	ss3629655553	Oct 12, 2018 (152)
103	ILLUMINA	ss3629655554	Oct 12, 2018 (152)
104	ILLUMINA	ss3632424354	Oct 12, 2018 (152)
105	ILLUMINA	ss3633437501	Oct 12, 2018 (152)
106	ILLUMINA	ss3634161079	Oct 12, 2018 (152)
107	ILLUMINA	ss3635088084	Oct 12, 2018 (152)
108	ILLUMINA	ss3635088085	Oct 12, 2018 (152)
109	ILLUMINA	ss3635841528	Oct 12, 2018 (152)
110	ILLUMINA	ss3636813360	Oct 12, 2018 (152)
111	ILLUMINA	ss3637594395	Oct 12, 2018 (152)
112	ILLUMINA	ss3638657045	Oct 12, 2018 (152)
113	ILLUMINA	ss3639329598	Oct 12, 2018 (152)
114	ILLUMINA	ss3639691732	Oct 12, 2018 (152)
115	ILLUMINA	ss3640795384	Oct 12, 2018 (152)
116	ILLUMINA	ss3640795385	Oct 12, 2018 (152)
117	ILLUMINA	ss3643596191	Oct 12, 2018 (152)
118	ILLUMINA	ss3644924253	Oct 12, 2018 (152)
119	ILLUMINA	ss3644924254	Oct 12, 2018 (152)
120	OMUKHERJEE_ADBS	ss3646343902	Oct 12, 2018 (152)
121	URBANLAB	ss3648472803	Oct 12, 2018 (152)
122	ILLUMINA	ss3653188720	Oct 12, 2018 (152)
123	ILLUMINA	ss3653188721	Oct 12, 2018 (152)
124	ILLUMINA	ss3654147493	Oct 12, 2018 (152)
125	EGCUT_WGS	ss3667872365	Jul 13, 2019 (153)
126	EVA_DECODE	ss3718282861	Jul 13, 2019 (153)
127	ILLUMINA	ss3726384058	Jul 13, 2019 (153)
128	ACPOP	ss3733985701	Jul 13, 2019 (153)
129	ILLUMINA	ss3744278675	Jul 13, 2019 (153)
130	ILLUMINA	ss3744560714	Jul 13, 2019 (153)
131	ILLUMINA	ss3745388015	Jul 13, 2019 (153)
132	ILLUMINA	ss3745388016	Jul 13, 2019 (153)
133	EVA	ss3765673672	Jul 13, 2019 (153)
134	PAGE_CC	ss3771322762	Jul 13, 2019 (153)
135	ILLUMINA	ss3772881406	Jul 13, 2019 (153)
136	ILLUMINA	ss3772881407	Jul 13, 2019 (153)
137	PACBIO	ss3785622036	Jul 13, 2019 (153)
138	PACBIO	ss3790950011	Jul 13, 2019 (153)
139	PACBIO	ss3795829281	Jul 13, 2019 (153)
140	KHV_HUMAN_GENOMES	ss3808829405	Jul 13, 2019 (153)
141	EVA	ss3824224143	Apr 26, 2020 (154)
142	EVA	ss3825523689	Apr 26, 2020 (154)
143	EVA	ss3825707242	Apr 26, 2020 (154)
144	EVA	ss3830193177	Apr 26, 2020 (154)
145	EVA	ss3838584212	Apr 26, 2020 (154)
146	EVA	ss3844034217	Apr 26, 2020 (154)
147	HGDP	ss3847850756	Apr 26, 2020 (154)
148	SGDP_PRJ	ss3865713419	Apr 26, 2020 (154)
149	KRGDB	ss3912669045	Apr 26, 2020 (154)
150	KOGIC	ss3960075728	Apr 26, 2020 (154)
151	FSA-LAB	ss3984348550	Apr 26, 2021 (155)
152	FSA-LAB	ss3984348551	Apr 26, 2021 (155)
153	EVA	ss3985251929	Apr 26, 2021 (155)
154	EVA	ss3986358861	Apr 26, 2021 (155)
155	EVA	ss4017299565	Apr 26, 2021 (155)
156	TOPMED	ss4721986551	Apr 26, 2021 (155)
157	TOMMO_GENOMICS	ss5179946855	Apr 26, 2021 (155)
158	EVA	ss5237027841	Apr 26, 2021 (155)
159	EVA	ss5237407072	Apr 26, 2021 (155)
160	1000G_HIGH_COVERAGE	ss5270359846	Oct 13, 2022 (156)
161	EVA	ss5315190530	Oct 13, 2022 (156)
162	EVA	ss5369030055	Oct 13, 2022 (156)
163	HUGCELL_USP	ss5467799996	Oct 13, 2022 (156)
164	EVA	ss5508709787	Oct 13, 2022 (156)
165	1000G_HIGH_COVERAGE	ss5557312793	Oct 13, 2022 (156)
166	EVA	ss5624160399	Oct 13, 2022 (156)
167	SANFORD_IMAGENETICS	ss5624642193	Oct 13, 2022 (156)
168	SANFORD_IMAGENETICS	ss5641496962	Oct 13, 2022 (156)
169	TOMMO_GENOMICS	ss5718836137	Oct 13, 2022 (156)
170	EVA	ss5799702398	Oct 13, 2022 (156)
171	EVA	ss5800134331	Oct 13, 2022 (156)
172	YY_MCH	ss5807961745	Oct 13, 2022 (156)
173	EVA	ss5842991501	Oct 13, 2022 (156)
174	EVA	ss5847303493	Oct 13, 2022 (156)
175	EVA	ss5848113219	Oct 13, 2022 (156)
176	EVA	ss5848667492	Oct 13, 2022 (156)
177	EVA	ss5855583981	Oct 13, 2022 (156)
178	EVA	ss5885966132	Oct 13, 2022 (156)
179	EVA	ss5936533152	Oct 13, 2022 (156)
180	EVA	ss5970176155	Oct 13, 2022 (156)
181	EVA	ss5979802281	Oct 13, 2022 (156)
182	EVA	ss5980393411	Oct 13, 2022 (156)
183	1000Genomes	NC_000006.11 - 130152520	Oct 12, 2018 (152)
184	1000Genomes_30x	NC_000006.12 - 129831375	Oct 13, 2022 (156)
185	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 130152520	Oct 12, 2018 (152)
186	Genome-wide autozygosity in Daghestan	NC_000006.10 - 130194213	Apr 26, 2020 (154)
187	Genetic variation in the Estonian population	NC_000006.11 - 130152520	Oct 12, 2018 (152)
188	ExAC	NC_000006.11 - 130152520	Oct 12, 2018 (152)
189	FINRISK	NC_000006.11 - 130152520	Apr 26, 2020 (154)
190	The Danish reference pan genome	NC_000006.11 - 130152520	Apr 26, 2020 (154)
191	gnomAD - Genomes	NC_000006.12 - 129831375	Apr 26, 2021 (155)
192	gnomAD - Exomes Submission ignored due to conflicting rows: Row 5208979 (NC_000006.11:130152519:A:A 158964/247450, NC_000006.11:130152519:A:C 88486/247450) Row 5208980 (NC_000006.11:130152519:A:A 247449/247450, NC_000006.11:130152519:A:T 1/247450)	-	Jul 13, 2019 (153)
193	gnomAD - Exomes Submission ignored due to conflicting rows: Row 5208979 (NC_000006.11:130152519:A:A 158964/247450, NC_000006.11:130152519:A:C 88486/247450) Row 5208980 (NC_000006.11:130152519:A:A 247449/247450, NC_000006.11:130152519:A:T 1/247450)	-	Jul 13, 2019 (153)
194	GO Exome Sequencing Project	NC_000006.11 - 130152520	Oct 12, 2018 (152)
195	Genome of the Netherlands Release 5	NC_000006.11 - 130152520	Apr 26, 2020 (154)
196	HGDP-CEPH-db Supplement 1	NC_000006.10 - 130194213	Apr 26, 2020 (154)
197	HapMap	NC_000006.12 - 129831375	Apr 26, 2020 (154)
198	KOREAN population from KRGDB	NC_000006.11 - 130152520	Apr 26, 2020 (154)
199	Korean Genome Project	NC_000006.12 - 129831375	Apr 26, 2020 (154)
200	Medical Genome Project healthy controls from Spanish population	NC_000006.11 - 130152520	Apr 26, 2020 (154)
201	Northern Sweden	NC_000006.11 - 130152520	Jul 13, 2019 (153)
202	The PAGE Study	NC_000006.12 - 129831375	Jul 13, 2019 (153)
203	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000006.11 - 130152520	Apr 26, 2021 (155)
204	Qatari	NC_000006.11 - 130152520	Apr 26, 2020 (154)
205	SGDP_PRJ	NC_000006.11 - 130152520	Apr 26, 2020 (154)
206	Siberian	NC_000006.11 - 130152520	Apr 26, 2020 (154)
207	8.3KJPN	NC_000006.11 - 130152520	Apr 26, 2021 (155)
208	14KJPN	NC_000006.12 - 129831375	Oct 13, 2022 (156)
209	TopMed	NC_000006.12 - 129831375	Apr 26, 2021 (155)
210	UK 10K study - Twins	NC_000006.11 - 130152520	Oct 12, 2018 (152)
211	A Vietnamese Genetic Variation Database	NC_000006.11 - 130152520	Jul 13, 2019 (153)
212	ALFA	NC_000006.12 - 129831375	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)
rs17395737	Oct 08, 2004 (123)
rs52808693	Sep 21, 2007 (128)
rs58635664	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3639329598, ss3639691732	NC_000006.9:130194212:A:C	NC_000006.12:129831374:A:C	(self)
445308, 528648, ss93559722, ss110916339, ss160913783, ss162813050, ss207545016, ss211924749, ss279022235, ss285505187, ss293724437, ss481671929, ss491896340, ss825600127, ss1397470885, ss1593071076, ss1712900025, ss3643596191, ss3847850756	NC_000006.10:130194212:A:C	NC_000006.12:129831374:A:C	(self)
34153708, 19031636, 13610613, 8539971, 45508, 8063411, 682137, 8477590, 19846439, 258607, 7270566, 477856, 8788852, 17730399, 4739962, 37916162, 19031636, 4237181, ss222675272, ss233684108, ss240698120, ss342222655, ss481702675, ss482670210, ss485630607, ss490934117, ss491391525, ss537512833, ss559524255, ss653765889, ss778985774, ss780853840, ss783260900, ss783537822, ss784214340, ss832521815, ss833132275, ss833723103, ss834447976, ss974461976, ss983502962, ss1067482808, ss1074035912, ss1322284060, ss1430896017, ss1581898472, ss1584049047, ss1616699708, ss1659693741, ss1688493290, ss1711142847, ss1752601208, ss1752601209, ss1804672179, ss1917810584, ss1926746922, ss1946191140, ss1946191141, ss1958950379, ss1958950380, ss1970526413, ss2024029650, ss2152223608, ss2634511095, ss2707854472, ss2711090566, ss2736058261, ss2747702141, ss2845161080, ss2985384511, ss2999956731, ss3022666176, ss3022666177, ss3023062477, ss3347229891, ss3625913729, ss3629655553, ss3629655554, ss3632424354, ss3633437501, ss3634161079, ss3635088084, ss3635088085, ss3635841528, ss3636813360, ss3637594395, ss3638657045, ss3640795384, ss3640795385, ss3644924253, ss3644924254, ss3646343902, ss3653188720, ss3653188721, ss3654147493, ss3667872365, ss3733985701, ss3744278675, ss3744560714, ss3745388015, ss3745388016, ss3765673672, ss3772881406, ss3772881407, ss3785622036, ss3790950011, ss3795829281, ss3824224143, ss3825523689, ss3825707242, ss3830193177, ss3838584212, ss3865713419, ss3912669045, ss3984348550, ss3984348551, ss3985251929, ss3986358861, ss4017299565, ss5179946855, ss5237407072, ss5315190530, ss5369030055, ss5508709787, ss5624160399, ss5624642193, ss5641496962, ss5799702398, ss5800134331, ss5842991501, ss5847303493, ss5848113219, ss5848667492, ss5936533152, ss5970176155, ss5979802281, ss5980393411	NC_000006.11:130152519:A:C	NC_000006.12:129831374:A:C	(self)
44838728, 241213427, 3248857, 16453729, 544231, 52673241, 559364109, 3807958273, ss2288413784, ss3025808485, ss3648472803, ss3718282861, ss3726384058, ss3771322762, ss3808829405, ss3844034217, ss3960075728, ss4721986551, ss5237027841, ss5270359846, ss5467799996, ss5557312793, ss5718836137, ss5807961745, ss5855583981, ss5885966132	NC_000006.12:129831374:A:C	NC_000006.12:129831374:A:C	(self)
ss11842509	NT_025741.12:34256948:A:C	NC_000006.12:129831374:A:C	(self)
ss17134443, ss22429214	NT_025741.13:34256948:A:C	NC_000006.12:129831374:A:C	(self)
ss76890304	NT_025741.14:34256948:A:C	NC_000006.12:129831374:A:C	(self)
ss24446655, ss44710580, ss65773673, ss66547245, ss67829356, ss67990429, ss68991178, ss70949168, ss71554962, ss74810583, ss75743245, ss79269609, ss84723402, ss98431648, ss122831965, ss144172887, ss144304763, ss154446555, ss159621358, ss159713487, ss172345904, ss174542654	NT_025741.15:34321976:A:C	NC_000006.12:129831374:A:C	(self)
	NC_000006.11:130152519:A:T	NC_000006.12:129831374:A:T	(self)

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

No publications for rs7776426

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.
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

rs7776426