Name: rs2629751
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.

rs2629751

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:104028030 (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>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.375265 (99329/264690, TOPMED)
G=0.360319 (50441/139990, GnomAD)
G=0.33425 (27965/83664, ALFA) (+ 21 more)
G=0.31945 (9027/28258, 14KJPN)
G=0.32124 (5384/16760, 8.3KJPN)
G=0.3696 (2367/6404, 1000G_30x)
G=0.3640 (1823/5008, 1000G)
G=0.2766 (1239/4480, Estonian)
G=0.3158 (1217/3854, ALSPAC)
G=0.3266 (1211/3708, TWINSUK)
G=0.2932 (859/2930, KOREAN)
G=0.3364 (701/2084, HGDP_Stanford)
G=0.3325 (629/1892, HapMap)
G=0.3013 (552/1832, Korea1K)
G=0.313 (312/998, GoNL)
G=0.311 (246/792, PRJEB37584)
G=0.365 (219/600, NorthernSweden)
A=0.351 (113/322, SGDP_PRJ)
G=0.259 (56/216, Qatari)
G=0.355 (76/214, Vietnamese)
G=0.15 (12/80, Ancient Sardinia)
G=0.38 (15/40, GENOME_DK)
A=0.50 (12/24, Siberian)
G=0.50 (12/24, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: GLT8D2 : Intron 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	83664	A=0.66575	G=0.33425
European	Sub	69232	A=0.67648	G=0.32352
African	Sub	5150	A=0.5474	G=0.4526
African Others	Sub	180	A=0.544	G=0.456
African American	Sub	4970	A=0.5475	G=0.4525
Asian	Sub	202	A=0.668	G=0.332
East Asian	Sub	160	A=0.662	G=0.338
Other Asian	Sub	42	A=0.69	G=0.31
Latin American 1	Sub	268	A=0.627	G=0.373
Latin American 2	Sub	1316	A=0.5973	G=0.4027
South Asian	Sub	4972	A=0.6748	G=0.3252
Other	Sub	2524	A=0.6347	G=0.3653

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	A=0.624735	G=0.375265
gnomAD - Genomes	Global	Study-wide	139990	A=0.639681	G=0.360319
gnomAD - Genomes	European	Sub	75866	A=0.68637	G=0.31363
gnomAD - Genomes	African	Sub	41908	A=0.56080	G=0.43920
gnomAD - Genomes	American	Sub	13622	A=0.61518	G=0.38482
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	A=0.6241	G=0.3759
gnomAD - Genomes	East Asian	Sub	3126	A=0.6942	G=0.3058
gnomAD - Genomes	Other	Sub	2148	A=0.6299	G=0.3701
Allele Frequency Aggregator	Total	Global	83664	A=0.66575	G=0.33425
Allele Frequency Aggregator	European	Sub	69232	A=0.67648	G=0.32352
Allele Frequency Aggregator	African	Sub	5150	A=0.5474	G=0.4526
Allele Frequency Aggregator	South Asian	Sub	4972	A=0.6748	G=0.3252
Allele Frequency Aggregator	Other	Sub	2524	A=0.6347	G=0.3653
Allele Frequency Aggregator	Latin American 2	Sub	1316	A=0.5973	G=0.4027
Allele Frequency Aggregator	Latin American 1	Sub	268	A=0.627	G=0.373
Allele Frequency Aggregator	Asian	Sub	202	A=0.668	G=0.332
14KJPN	JAPANESE	Study-wide	28258	A=0.68055	G=0.31945
8.3KJPN	JAPANESE	Study-wide	16760	A=0.67876	G=0.32124
1000Genomes_30x	Global	Study-wide	6404	A=0.6304	G=0.3696
1000Genomes_30x	African	Sub	1786	A=0.5683	G=0.4317
1000Genomes_30x	Europe	Sub	1266	A=0.6714	G=0.3286
1000Genomes_30x	South Asian	Sub	1202	A=0.6739	G=0.3261
1000Genomes_30x	East Asian	Sub	1170	A=0.6872	G=0.3128
1000Genomes_30x	American	Sub	980	A=0.569	G=0.431
1000Genomes	Global	Study-wide	5008	A=0.6360	G=0.3640
1000Genomes	African	Sub	1322	A=0.5658	G=0.4342
1000Genomes	East Asian	Sub	1008	A=0.6885	G=0.3115
1000Genomes	Europe	Sub	1006	A=0.6829	G=0.3171
1000Genomes	South Asian	Sub	978	A=0.672	G=0.328
1000Genomes	American	Sub	694	A=0.575	G=0.425
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.7234	G=0.2766
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.6842	G=0.3158
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.6734	G=0.3266
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.7068	G=0.2932
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.6636	G=0.3364
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.721	G=0.279
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.717	G=0.283
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.760	G=0.240
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.672	G=0.328
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.624	G=0.376
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.338	G=0.662
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.58	G=0.42
HapMap	Global	Study-wide	1892	A=0.6675	G=0.3325
HapMap	American	Sub	770	A=0.677	G=0.323
HapMap	African	Sub	692	A=0.642	G=0.358
HapMap	Asian	Sub	254	A=0.681	G=0.319
HapMap	Europe	Sub	176	A=0.710	G=0.290
Korean Genome Project	KOREAN	Study-wide	1832	A=0.6987	G=0.3013
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.687	G=0.313
CNV burdens in cranial meningiomas	Global	Study-wide	792	A=0.689	G=0.311
CNV burdens in cranial meningiomas	CRM	Sub	792	A=0.689	G=0.311
Northern Sweden	ACPOP	Study-wide	600	A=0.635	G=0.365
SGDP_PRJ	Global	Study-wide	322	A=0.351	G=0.649
Qatari	Global	Study-wide	216	A=0.741	G=0.259
A Vietnamese Genetic Variation Database	Global	Study-wide	214	A=0.645	G=0.355
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	80	A=0.85	G=0.15
The Danish reference pan genome	Danish	Study-wide	40	A=0.62	G=0.38
Siberian	Global	Study-wide	24	A=0.50	G=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 12	NC_000012.12:g.104028030A>G
GRCh37.p13 chr 12	NC_000012.11:g.104421808A>G

Gene: GLT8D2, glycosyltransferase 8 domain containing 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GLT8D2 transcript variant 2	NM_001316967.2:c.-28-8354… NM_001316967.2:c.-28-8354T>C	N/A	Intron Variant
GLT8D2 transcript variant 4	NM_001384711.1:c.-163-653… NM_001384711.1:c.-163-6539T>C	N/A	Intron Variant
GLT8D2 transcript variant 3	NM_001384712.1:c.-28-8354… NM_001384712.1:c.-28-8354T>C	N/A	Intron Variant
GLT8D2 transcript variant 5	NM_001384713.1:c.-163-653… NM_001384713.1:c.-163-6539T>C	N/A	Intron Variant
GLT8D2 transcript variant 6	NM_001384715.1:c.-163-653… NM_001384715.1:c.-163-6539T>C	N/A	Intron Variant
GLT8D2 transcript variant 7	NM_001384716.1:c.-28-8354… NM_001384716.1:c.-28-8354T>C	N/A	Intron Variant
GLT8D2 transcript variant 8	NM_001384717.1:c.-163-653… NM_001384717.1:c.-163-6539T>C	N/A	Intron Variant
GLT8D2 transcript variant 9	NM_001384718.1:c.-163-653… NM_001384718.1:c.-163-6539T>C	N/A	Intron Variant
GLT8D2 transcript variant 10	NM_001384719.1:c.-163-653… NM_001384719.1:c.-163-6539T>C	N/A	Intron Variant
GLT8D2 transcript variant 11	NM_001384720.1:c.-163-653… NM_001384720.1:c.-163-6539T>C	N/A	Intron Variant
GLT8D2 transcript variant 12	NM_001384721.1:c.-163-653… NM_001384721.1:c.-163-6539T>C	N/A	Intron Variant
GLT8D2 transcript variant 13	NM_001384722.1:c.-163-653… NM_001384722.1:c.-163-6539T>C	N/A	Intron Variant
GLT8D2 transcript variant 1	NM_031302.5:c.-163-6539T>C	N/A	Intron Variant
GLT8D2 transcript variant 14	NR_169300.1:n.	N/A	Genic Downstream Transcript Variant
GLT8D2 transcript variant 15	NR_169301.1:n.	N/A	Genic Downstream Transcript Variant
GLT8D2 transcript variant 16	NR_169302.1:n.	N/A	Genic Downstream Transcript Variant
GLT8D2 transcript variant 17	NR_169303.1:n.	N/A	Genic Downstream Transcript Variant
GLT8D2 transcript variant X3	XM_017019999.2:c.-163-653… XM_017019999.2:c.-163-6539T>C	N/A	Intron Variant
GLT8D2 transcript variant X1	XM_047429629.1:c.-163-653… XM_047429629.1:c.-163-6539T>C	N/A	Intron Variant
GLT8D2 transcript variant X2	XM_047429630.1:c.-163-653… XM_047429630.1:c.-163-6539T>C	N/A	Intron Variant
GLT8D2 transcript variant X4	XM_047429631.1:c.-28-8354… XM_047429631.1:c.-28-8354T>C	N/A	Intron Variant
GLT8D2 transcript variant X5	XM_047429632.1:c.-164+166… XM_047429632.1:c.-164+1666T>C	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	A=	G
GRCh38.p14 chr 12	NC_000012.12:g.104028030=	NC_000012.12:g.104028030A>G
GRCh37.p13 chr 12	NC_000012.11:g.104421808=	NC_000012.11:g.104421808A>G
GLT8D2 transcript variant 2	NM_001316967.2:c.-28-8354=	NM_001316967.2:c.-28-8354T>C
GLT8D2 transcript variant 4	NM_001384711.1:c.-163-6539=	NM_001384711.1:c.-163-6539T>C
GLT8D2 transcript variant 3	NM_001384712.1:c.-28-8354=	NM_001384712.1:c.-28-8354T>C
GLT8D2 transcript variant 5	NM_001384713.1:c.-163-6539=	NM_001384713.1:c.-163-6539T>C
GLT8D2 transcript variant 6	NM_001384715.1:c.-163-6539=	NM_001384715.1:c.-163-6539T>C
GLT8D2 transcript variant 7	NM_001384716.1:c.-28-8354=	NM_001384716.1:c.-28-8354T>C
GLT8D2 transcript variant 8	NM_001384717.1:c.-163-6539=	NM_001384717.1:c.-163-6539T>C
GLT8D2 transcript variant 9	NM_001384718.1:c.-163-6539=	NM_001384718.1:c.-163-6539T>C
GLT8D2 transcript variant 10	NM_001384719.1:c.-163-6539=	NM_001384719.1:c.-163-6539T>C
GLT8D2 transcript variant 11	NM_001384720.1:c.-163-6539=	NM_001384720.1:c.-163-6539T>C
GLT8D2 transcript variant 12	NM_001384721.1:c.-163-6539=	NM_001384721.1:c.-163-6539T>C
GLT8D2 transcript variant 13	NM_001384722.1:c.-163-6539=	NM_001384722.1:c.-163-6539T>C
GLT8D2 transcript	NM_031302.3:c.-163-6539=	NM_031302.3:c.-163-6539T>C
GLT8D2 transcript variant 1	NM_031302.5:c.-163-6539=	NM_031302.5:c.-163-6539T>C
GLT8D2 transcript variant X1	XM_005269169.1:c.-163-6539=	XM_005269169.1:c.-163-6539T>C
GLT8D2 transcript variant X2	XM_005269170.1:c.-164+1666=	XM_005269170.1:c.-164+1666T>C
GLT8D2 transcript variant X3	XM_005269171.1:c.-28-8354=	XM_005269171.1:c.-28-8354T>C
GLT8D2 transcript variant X3	XM_017019999.2:c.-163-6539=	XM_017019999.2:c.-163-6539T>C
GLT8D2 transcript variant X1	XM_047429629.1:c.-163-6539=	XM_047429629.1:c.-163-6539T>C
GLT8D2 transcript variant X2	XM_047429630.1:c.-163-6539=	XM_047429630.1:c.-163-6539T>C
GLT8D2 transcript variant X4	XM_047429631.1:c.-28-8354=	XM_047429631.1:c.-28-8354T>C
GLT8D2 transcript variant X5	XM_047429632.1:c.-164+1666=	XM_047429632.1:c.-164+1666T>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#.

100 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss3703811	Sep 28, 2001 (100)
2	BCM_SSAHASNP	ss11027965	Jul 11, 2003 (116)
3	SC_SNP	ss15934180	Feb 27, 2004 (120)
4	CSHL-HAPMAP	ss19950637	Feb 27, 2004 (120)
5	PERLEGEN	ss23252808	Sep 20, 2004 (123)
6	ABI	ss38984255	Mar 14, 2006 (126)
7	ILLUMINA	ss66678835	Dec 02, 2006 (127)
8	ILLUMINA	ss67264586	Dec 02, 2006 (127)
9	ILLUMINA	ss67664272	Dec 02, 2006 (127)
10	PERLEGEN	ss69119304	May 18, 2007 (127)
11	ILLUMINA	ss70742980	May 25, 2008 (130)
12	ILLUMINA	ss71314230	May 18, 2007 (127)
13	ILLUMINA	ss75593455	Dec 07, 2007 (129)
14	ILLUMINA	ss79141544	Dec 15, 2007 (130)
15	KRIBB_YJKIM	ss84063777	Dec 15, 2007 (130)
16	BGI	ss103079031	Dec 01, 2009 (131)
17	ILLUMINA	ss122073441	Dec 01, 2009 (131)
18	ILLUMINA	ss154224767	Dec 01, 2009 (131)
19	GMI	ss157866439	Dec 01, 2009 (131)
20	ILLUMINA	ss159401269	Dec 01, 2009 (131)
21	ENSEMBL	ss161475239	Dec 01, 2009 (131)
22	COMPLETE_GENOMICS	ss168691041	Jul 04, 2010 (132)
23	ILLUMINA	ss171325154	Jul 04, 2010 (132)
24	ILLUMINA	ss173412851	Jul 04, 2010 (132)
25	BUSHMAN	ss198635006	Jul 04, 2010 (132)
26	1000GENOMES	ss225937076	Jul 14, 2010 (132)
27	1000GENOMES	ss236071658	Jul 15, 2010 (132)
28	1000GENOMES	ss242601877	Jul 15, 2010 (132)
29	GMI	ss281531936	May 04, 2012 (137)
30	PJP	ss291332029	May 09, 2011 (134)
31	ILLUMINA	ss482959311	May 04, 2012 (137)
32	ILLUMINA	ss483775737	May 04, 2012 (137)
33	ILLUMINA	ss535974468	Sep 08, 2015 (146)
34	TISHKOFF	ss563375846	Apr 25, 2013 (138)
35	SSMP	ss658958081	Apr 25, 2013 (138)
36	ILLUMINA	ss780404025	Aug 21, 2014 (142)
37	ILLUMINA	ss782331403	Aug 21, 2014 (142)
38	ILLUMINA	ss825472062	Apr 01, 2015 (144)
39	ILLUMINA	ss832912983	Jul 13, 2019 (153)
40	ILLUMINA	ss835892921	Aug 21, 2014 (142)
41	EVA-GONL	ss989910713	Aug 21, 2014 (142)
42	JMKIDD_LAB	ss1078735986	Aug 21, 2014 (142)
43	1000GENOMES	ss1346450816	Aug 21, 2014 (142)
44	DDI	ss1427040379	Apr 01, 2015 (144)
45	EVA_GENOME_DK	ss1576497053	Apr 01, 2015 (144)
46	EVA_UK10K_ALSPAC	ss1629342947	Apr 01, 2015 (144)
47	EVA_DECODE	ss1642013678	Apr 01, 2015 (144)
48	EVA_UK10K_TWINSUK	ss1672336980	Apr 01, 2015 (144)
49	EVA_SVP	ss1713354215	Apr 01, 2015 (144)
50	HAMMER_LAB	ss1807398552	Sep 08, 2015 (146)
51	WEILL_CORNELL_DGM	ss1933264631	Feb 12, 2016 (147)
52	GENOMED	ss1967671736	Jul 19, 2016 (147)
53	JJLAB	ss2027389274	Sep 14, 2016 (149)
54	USC_VALOUEV	ss2155735679	Dec 20, 2016 (150)
55	HUMAN_LONGEVITY	ss2192791747	Dec 20, 2016 (150)
56	SYSTEMSBIOZJU	ss2628175575	Nov 08, 2017 (151)
57	ILLUMINA	ss2633002591	Nov 08, 2017 (151)
58	GRF	ss2700092840	Nov 08, 2017 (151)
59	GNOMAD	ss2914643819	Nov 08, 2017 (151)
60	SWEGEN	ss3010271749	Nov 08, 2017 (151)
61	ILLUMINA	ss3021461287	Nov 08, 2017 (151)
62	BIOINF_KMB_FNS_UNIBA	ss3027504882	Nov 08, 2017 (151)
63	CSHL	ss3350228595	Nov 08, 2017 (151)
64	ILLUMINA	ss3626957195	Oct 12, 2018 (152)
65	ILLUMINA	ss3631009357	Oct 12, 2018 (152)
66	ILLUMINA	ss3637983619	Oct 12, 2018 (152)
67	ILLUMINA	ss3639005175	Oct 12, 2018 (152)
68	ILLUMINA	ss3639505387	Oct 12, 2018 (152)
69	ILLUMINA	ss3641809173	Oct 12, 2018 (152)
70	ILLUMINA	ss3642975463	Oct 12, 2018 (152)
71	ILLUMINA	ss3651842936	Oct 12, 2018 (152)
72	EGCUT_WGS	ss3677568639	Jul 13, 2019 (153)
73	EVA_DECODE	ss3694371350	Jul 13, 2019 (153)
74	ILLUMINA	ss3725352971	Jul 13, 2019 (153)
75	ACPOP	ss3739341838	Jul 13, 2019 (153)
76	EVA	ss3750908550	Jul 13, 2019 (153)
77	KHV_HUMAN_GENOMES	ss3816241935	Jul 13, 2019 (153)
78	EVA	ss3833303442	Apr 27, 2020 (154)
79	HGDP	ss3847462655	Apr 27, 2020 (154)
80	SGDP_PRJ	ss3879015810	Apr 27, 2020 (154)
81	KRGDB	ss3927742916	Apr 27, 2020 (154)
82	KOGIC	ss3972625083	Apr 27, 2020 (154)
83	EVA	ss3984672439	Apr 26, 2021 (155)
84	EVA	ss3985611778	Apr 26, 2021 (155)
85	EVA	ss4017607703	Apr 26, 2021 (155)
86	TOPMED	ss4931133619	Apr 26, 2021 (155)
87	TOMMO_GENOMICS	ss5207951397	Apr 26, 2021 (155)
88	1000G_HIGH_COVERAGE	ss5292068683	Oct 16, 2022 (156)
89	EVA	ss5315645766	Oct 16, 2022 (156)
90	EVA	ss5407926142	Oct 16, 2022 (156)
91	HUGCELL_USP	ss5486688297	Oct 16, 2022 (156)
92	1000G_HIGH_COVERAGE	ss5590216560	Oct 16, 2022 (156)
93	SANFORD_IMAGENETICS	ss5624310892	Oct 16, 2022 (156)
94	SANFORD_IMAGENETICS	ss5653866531	Oct 16, 2022 (156)
95	TOMMO_GENOMICS	ss5758208890	Oct 16, 2022 (156)
96	YY_MCH	ss5813605637	Oct 16, 2022 (156)
97	EVA	ss5838449742	Oct 16, 2022 (156)
98	EVA	ss5850528113	Oct 16, 2022 (156)
99	EVA	ss5905830246	Oct 16, 2022 (156)
100	EVA	ss5945264686	Oct 16, 2022 (156)
101	1000Genomes	NC_000012.11 - 104421808	Oct 12, 2018 (152)
102	1000Genomes_30x	NC_000012.12 - 104028030	Oct 16, 2022 (156)
103	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 104421808	Oct 12, 2018 (152)
104	Genetic variation in the Estonian population	NC_000012.11 - 104421808	Oct 12, 2018 (152)
105	The Danish reference pan genome	NC_000012.11 - 104421808	Apr 27, 2020 (154)
106	gnomAD - Genomes	NC_000012.12 - 104028030	Apr 26, 2021 (155)
107	Genome of the Netherlands Release 5	NC_000012.11 - 104421808	Apr 27, 2020 (154)
108	HGDP-CEPH-db Supplement 1	NC_000012.10 - 102945938	Apr 27, 2020 (154)
109	HapMap	NC_000012.12 - 104028030	Apr 27, 2020 (154)
110	KOREAN population from KRGDB	NC_000012.11 - 104421808	Apr 27, 2020 (154)
111	Korean Genome Project	NC_000012.12 - 104028030	Apr 27, 2020 (154)
112	Northern Sweden	NC_000012.11 - 104421808	Jul 13, 2019 (153)
113	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000012.11 - 104421808	Apr 26, 2021 (155)
114	CNV burdens in cranial meningiomas	NC_000012.11 - 104421808	Apr 26, 2021 (155)
115	Qatari	NC_000012.11 - 104421808	Apr 27, 2020 (154)
116	SGDP_PRJ	NC_000012.11 - 104421808	Apr 27, 2020 (154)
117	Siberian	NC_000012.11 - 104421808	Apr 27, 2020 (154)
118	8.3KJPN	NC_000012.11 - 104421808	Apr 26, 2021 (155)
119	14KJPN	NC_000012.12 - 104028030	Oct 16, 2022 (156)
120	TopMed	NC_000012.12 - 104028030	Apr 26, 2021 (155)
121	UK 10K study - Twins	NC_000012.11 - 104421808	Oct 12, 2018 (152)
122	A Vietnamese Genetic Variation Database	NC_000012.11 - 104421808	Jul 13, 2019 (153)
123	ALFA	NC_000012.12 - 104028030	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)
rs59990803	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3639005175, ss3639505387	NC_000012.9:102924274:A:G	NC_000012.12:104028029:A:G	(self)
140547, ss168691041, ss198635006, ss281531936, ss291332029, ss482959311, ss825472062, ss1642013678, ss1713354215, ss3642975463, ss3847462655	NC_000012.10:102945937:A:G	NC_000012.12:104028029:A:G	(self)
59254671, 32903521, 23306887, 3109098, 14680531, 34920310, 12626703, 837705, 221934, 15306561, 31032790, 8252033, 65920704, 32903521, 7303679, ss225937076, ss236071658, ss242601877, ss483775737, ss535974468, ss563375846, ss658958081, ss780404025, ss782331403, ss832912983, ss835892921, ss989910713, ss1078735986, ss1346450816, ss1427040379, ss1576497053, ss1629342947, ss1672336980, ss1807398552, ss1933264631, ss1967671736, ss2027389274, ss2155735679, ss2628175575, ss2633002591, ss2700092840, ss2914643819, ss3010271749, ss3021461287, ss3350228595, ss3626957195, ss3631009357, ss3637983619, ss3641809173, ss3651842936, ss3677568639, ss3739341838, ss3750908550, ss3833303442, ss3879015810, ss3927742916, ss3984672439, ss3985611778, ss4017607703, ss5207951397, ss5315645766, ss5407926142, ss5624310892, ss5653866531, ss5838449742, ss5945264686	NC_000012.11:104421807:A:G	NC_000012.12:104028029:A:G	(self)
77742495, 417964965, 895304, 29003084, 92045994, 146679276, 2086326727, ss2192791747, ss3027504882, ss3694371350, ss3725352971, ss3816241935, ss3972625083, ss4931133619, ss5292068683, ss5486688297, ss5590216560, ss5758208890, ss5813605637, ss5850528113, ss5905830246	NC_000012.12:104028029:A:G	NC_000012.12:104028029:A:G	(self)
ss11027965, ss15934180, ss19950637	NT_019546.15:27903997:A:G	NC_000012.12:104028029:A:G	(self)
ss3703811, ss23252808, ss38984255, ss66678835, ss67264586, ss67664272, ss69119304, ss70742980, ss71314230, ss75593455, ss79141544, ss84063777, ss103079031, ss122073441, ss154224767, ss157866439, ss159401269, ss161475239, ss171325154, ss173412851	NT_029419.12:66565113:A:G	NC_000012.12:104028029:A:G	(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 rs2629751

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2629751