Name: rs1320763
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.

rs1320763

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:3411482 (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>A / T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.275409 (72898/264690, TOPMED)
C=0.257868 (34968/135604, GnomAD)
C=0.27938 (19454/69632, ALFA) (+ 18 more)
C=0.38252 (10491/27426, 14KJPN)
C=0.37488 (6037/16104, 8.3KJPN)
C=0.2934 (1879/6404, 1000G_30x)
C=0.3073 (1539/5008, 1000G)
C=0.2794 (1234/4416, Estonian)
C=0.2794 (1077/3854, ALSPAC)
C=0.2869 (1064/3708, TWINSUK)
C=0.4645 (1361/2930, KOREAN)
C=0.3172 (661/2084, HGDP_Stanford)
C=0.2854 (540/1892, HapMap)
C=0.4565 (798/1748, Korea1K)
C=0.302 (301/998, GoNL)
C=0.338 (198/586, NorthernSweden)
T=0.344 (110/320, SGDP_PRJ)
C=0.222 (48/216, Qatari)
C=0.441 (90/204, Vietnamese)
C=0.28 (26/94, Ancient Sardinia)
T=0.40 (16/40, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RGS12 : 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	69632	T=0.72062	C=0.27938
European	Sub	57312	T=0.71322	C=0.28678
African	Sub	4502	T=0.7908	C=0.2092
African Others	Sub	170	T=0.818	C=0.182
African American	Sub	4332	T=0.7897	C=0.2103
Asian	Sub	186	T=0.565	C=0.435
East Asian	Sub	146	T=0.562	C=0.438
Other Asian	Sub	40	T=0.57	C=0.42
Latin American 1	Sub	246	T=0.728	C=0.272
Latin American 2	Sub	1226	T=0.6533	C=0.3467
South Asian	Sub	4956	T=0.7688	C=0.2312
Other	Sub	1204	T=0.7035	C=0.2965

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=0.724591	C=0.275409
gnomAD - Genomes	Global	Study-wide	135604	T=0.742132	C=0.257868
gnomAD - Genomes	European	Sub	73034	T=0.72266	C=0.27734
gnomAD - Genomes	African	Sub	41160	T=0.80367	C=0.19633
gnomAD - Genomes	American	Sub	13136	T=0.71483	C=0.28517
gnomAD - Genomes	Ashkenazi Jewish	Sub	3238	T=0.7069	C=0.2931
gnomAD - Genomes	East Asian	Sub	2970	T=0.5370	C=0.4630
gnomAD - Genomes	Other	Sub	2066	T=0.7280	C=0.2720
Allele Frequency Aggregator	Total	Global	69632	T=0.72062	C=0.27938
Allele Frequency Aggregator	European	Sub	57312	T=0.71322	C=0.28678
Allele Frequency Aggregator	South Asian	Sub	4956	T=0.7688	C=0.2312
Allele Frequency Aggregator	African	Sub	4502	T=0.7908	C=0.2092
Allele Frequency Aggregator	Latin American 2	Sub	1226	T=0.6533	C=0.3467
Allele Frequency Aggregator	Other	Sub	1204	T=0.7035	C=0.2965
Allele Frequency Aggregator	Latin American 1	Sub	246	T=0.728	C=0.272
Allele Frequency Aggregator	Asian	Sub	186	T=0.565	C=0.435
14KJPN	JAPANESE	Study-wide	27426	T=0.61748	C=0.38252
8.3KJPN	JAPANESE	Study-wide	16104	T=0.62512	C=0.37488
1000Genomes_30x	Global	Study-wide	6404	T=0.7066	C=0.2934
1000Genomes_30x	African	Sub	1786	T=0.7973	C=0.2027
1000Genomes_30x	Europe	Sub	1266	T=0.7275	C=0.2725
1000Genomes_30x	South Asian	Sub	1202	T=0.7671	C=0.2329
1000Genomes_30x	East Asian	Sub	1170	T=0.5581	C=0.4419
1000Genomes_30x	American	Sub	980	T=0.617	C=0.383
1000Genomes	Global	Study-wide	5008	T=0.6927	C=0.3073
1000Genomes	African	Sub	1322	T=0.7890	C=0.2110
1000Genomes	East Asian	Sub	1008	T=0.5377	C=0.4623
1000Genomes	Europe	Sub	1006	T=0.7207	C=0.2793
1000Genomes	South Asian	Sub	978	T=0.755	C=0.245
1000Genomes	American	Sub	694	T=0.607	C=0.393
Genetic variation in the Estonian population	Estonian	Study-wide	4416	T=0.7206	C=0.2794
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.7206	C=0.2794
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.7131	C=0.2869
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.5355	A=0.0000, C=0.4645
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	T=0.6828	C=0.3172
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.545	C=0.455
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.742	C=0.258
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.789	C=0.211
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.778	C=0.222
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.822	C=0.178
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.491	C=0.509
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.42	C=0.58
HapMap	Global	Study-wide	1892	T=0.7146	C=0.2854
HapMap	American	Sub	770	T=0.691	C=0.309
HapMap	African	Sub	692	T=0.803	C=0.197
HapMap	Asian	Sub	254	T=0.551	C=0.449
HapMap	Europe	Sub	176	T=0.705	C=0.295
Korean Genome Project	KOREAN	Study-wide	1748	T=0.5435	C=0.4565
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.698	C=0.302
Northern Sweden	ACPOP	Study-wide	586	T=0.662	C=0.338
SGDP_PRJ	Global	Study-wide	320	T=0.344	C=0.656
Qatari	Global	Study-wide	216	T=0.778	C=0.222
A Vietnamese Genetic Variation Database	Global	Study-wide	204	T=0.559	C=0.441
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	94	T=0.72	C=0.28
Siberian	Global	Study-wide	40	T=0.40	C=0.60

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.3411482T>A
GRCh38.p14 chr 4	NC_000004.12:g.3411482T>C
GRCh37.p13 chr 4	NC_000004.11:g.3413209T>A
GRCh37.p13 chr 4	NC_000004.11:g.3413209T>C
RGS12 RefSeqGene	NG_029903.1:g.102336T>A
RGS12 RefSeqGene	NG_029903.1:g.102336T>C

Gene: RGS12, regulator of G protein signaling 12 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RGS12 transcript variant 4	NM_001394154.1:c.2021-259… NM_001394154.1:c.2021-2590T>A	N/A	Intron Variant
RGS12 transcript variant 5	NM_001394155.1:c.2021-259… NM_001394155.1:c.2021-2590T>A	N/A	Intron Variant
RGS12 transcript variant 6	NM_001394156.1:c.2021-259… NM_001394156.1:c.2021-2590T>A	N/A	Intron Variant
RGS12 transcript variant 7	NM_001394157.1:c.2021-259… NM_001394157.1:c.2021-2590T>A	N/A	Intron Variant
RGS12 transcript variant 8	NM_001394158.1:c.2021-259… NM_001394158.1:c.2021-2590T>A	N/A	Intron Variant
RGS12 transcript variant 10	NM_001394161.1:c.-383-259… NM_001394161.1:c.-383-2590T>A	N/A	Intron Variant
RGS12 transcript variant 11	NM_001394162.1:c.-383-259… NM_001394162.1:c.-383-2590T>A	N/A	Intron Variant
RGS12 transcript variant 12	NM_001394163.1:c.-383-259… NM_001394163.1:c.-383-2590T>A	N/A	Intron Variant
RGS12 transcript variant 2	NM_002926.5:c.2021-2590T>A	N/A	Intron Variant
RGS12 transcript variant 3	NM_198227.2:c.77-2590T>A	N/A	Intron Variant
RGS12 transcript variant 1	NM_198229.3:c.2021-2590T>A	N/A	Intron Variant
RGS12 transcript variant 9	NM_001394159.1:c.	N/A	Genic Downstream Transcript Variant
RGS12 transcript variant X5	XM_011513543.3:c.-383-259… XM_011513543.3:c.-383-2590T>A	N/A	Intron Variant
RGS12 transcript variant X1	XM_017008529.3:c.2021-259… XM_017008529.3:c.2021-2590T>A	N/A	Intron Variant
RGS12 transcript variant X8	XM_017008534.2:c.77-2590T… XM_017008534.2:c.77-2590T>A	N/A	Intron Variant
RGS12 transcript variant X2	XM_047416055.1:c.2021-259… XM_047416055.1:c.2021-2590T>A	N/A	Intron Variant
RGS12 transcript variant X3	XM_047416056.1:c.2021-259… XM_047416056.1:c.2021-2590T>A	N/A	Intron Variant
RGS12 transcript variant X6	XM_047416058.1:c.-383-259… XM_047416058.1:c.-383-2590T>A	N/A	Intron Variant
RGS12 transcript variant X7	XM_047416059.1:c.-383-259… XM_047416059.1:c.-383-2590T>A	N/A	Intron Variant
RGS12 transcript variant X9	XM_047416060.1:c.-383-259… XM_047416060.1:c.-383-2590T>A	N/A	Intron Variant
RGS12 transcript variant X4	XM_047416057.1:c.	N/A	Genic Downstream Transcript 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=	A	C
GRCh38.p14 chr 4	NC_000004.12:g.3411482=	NC_000004.12:g.3411482T>A	NC_000004.12:g.3411482T>C
GRCh37.p13 chr 4	NC_000004.11:g.3413209=	NC_000004.11:g.3413209T>A	NC_000004.11:g.3413209T>C
RGS12 RefSeqGene	NG_029903.1:g.102336=	NG_029903.1:g.102336T>A	NG_029903.1:g.102336T>C
RGS12 transcript variant 4	NM_001394154.1:c.2021-2590=	NM_001394154.1:c.2021-2590T>A	NM_001394154.1:c.2021-2590T>C
RGS12 transcript variant 5	NM_001394155.1:c.2021-2590=	NM_001394155.1:c.2021-2590T>A	NM_001394155.1:c.2021-2590T>C
RGS12 transcript variant 6	NM_001394156.1:c.2021-2590=	NM_001394156.1:c.2021-2590T>A	NM_001394156.1:c.2021-2590T>C
RGS12 transcript variant 7	NM_001394157.1:c.2021-2590=	NM_001394157.1:c.2021-2590T>A	NM_001394157.1:c.2021-2590T>C
RGS12 transcript variant 8	NM_001394158.1:c.2021-2590=	NM_001394158.1:c.2021-2590T>A	NM_001394158.1:c.2021-2590T>C
RGS12 transcript variant 10	NM_001394161.1:c.-383-2590=	NM_001394161.1:c.-383-2590T>A	NM_001394161.1:c.-383-2590T>C
RGS12 transcript variant 11	NM_001394162.1:c.-383-2590=	NM_001394162.1:c.-383-2590T>A	NM_001394162.1:c.-383-2590T>C
RGS12 transcript variant 12	NM_001394163.1:c.-383-2590=	NM_001394163.1:c.-383-2590T>A	NM_001394163.1:c.-383-2590T>C
RGS12 transcript variant 2	NM_002926.3:c.2021-2590=	NM_002926.3:c.2021-2590T>A	NM_002926.3:c.2021-2590T>C
RGS12 transcript variant 2	NM_002926.5:c.2021-2590=	NM_002926.5:c.2021-2590T>A	NM_002926.5:c.2021-2590T>C
RGS12 transcript variant 3	NM_198227.1:c.77-2590=	NM_198227.1:c.77-2590T>A	NM_198227.1:c.77-2590T>C
RGS12 transcript variant 3	NM_198227.2:c.77-2590=	NM_198227.2:c.77-2590T>A	NM_198227.2:c.77-2590T>C
RGS12 transcript variant 1	NM_198229.2:c.2021-2590=	NM_198229.2:c.2021-2590T>A	NM_198229.2:c.2021-2590T>C
RGS12 transcript variant 1	NM_198229.3:c.2021-2590=	NM_198229.3:c.2021-2590T>A	NM_198229.3:c.2021-2590T>C
RGS12 transcript variant X1	XM_005247990.1:c.215-2590=	XM_005247990.1:c.215-2590T>A	XM_005247990.1:c.215-2590T>C
RGS12 transcript variant X5	XM_011513543.3:c.-383-2590=	XM_011513543.3:c.-383-2590T>A	XM_011513543.3:c.-383-2590T>C
RGS12 transcript variant X1	XM_017008529.3:c.2021-2590=	XM_017008529.3:c.2021-2590T>A	XM_017008529.3:c.2021-2590T>C
RGS12 transcript variant X8	XM_017008534.2:c.77-2590=	XM_017008534.2:c.77-2590T>A	XM_017008534.2:c.77-2590T>C
RGS12 transcript variant X2	XM_047416055.1:c.2021-2590=	XM_047416055.1:c.2021-2590T>A	XM_047416055.1:c.2021-2590T>C
RGS12 transcript variant X3	XM_047416056.1:c.2021-2590=	XM_047416056.1:c.2021-2590T>A	XM_047416056.1:c.2021-2590T>C
RGS12 transcript variant X6	XM_047416058.1:c.-383-2590=	XM_047416058.1:c.-383-2590T>A	XM_047416058.1:c.-383-2590T>C
RGS12 transcript variant X7	XM_047416059.1:c.-383-2590=	XM_047416059.1:c.-383-2590T>A	XM_047416059.1:c.-383-2590T>C
RGS12 transcript variant X9	XM_047416060.1:c.-383-2590=	XM_047416060.1:c.-383-2590T>A	XM_047416060.1:c.-383-2590T>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#.

92 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss2089201	Oct 23, 2000 (88)
2	BCM_SSAHASNP	ss10150683	Jul 11, 2003 (116)
3	CSHL-HAPMAP	ss17035947	Feb 27, 2004 (120)
4	SSAHASNP	ss22141768	Apr 05, 2004 (121)
5	PERLEGEN	ss23895161	Sep 20, 2004 (123)
6	ILLUMINA	ss66574965	Dec 01, 2006 (127)
7	ILLUMINA	ss67064497	Dec 01, 2006 (127)
8	ILLUMINA	ss67392759	Dec 01, 2006 (127)
9	ILLUMINA	ss70420688	May 18, 2007 (127)
10	ILLUMINA	ss70597791	May 26, 2008 (130)
11	ILLUMINA	ss71142456	May 18, 2007 (127)
12	ILLUMINA	ss74942005	Dec 06, 2007 (129)
13	KRIBB_YJKIM	ss83717762	Dec 15, 2007 (130)
14	BCMHGSC_JDW	ss92442867	Mar 24, 2008 (129)
15	HUMANGENOME_JCVI	ss98927151	Feb 06, 2009 (130)
16	BGI	ss104033213	Feb 21, 2009 (130)
17	ILLUMINA	ss121627547	Dec 01, 2009 (131)
18	ENSEMBL	ss139400662	Dec 01, 2009 (131)
19	ENSEMBL	ss143834897	Dec 01, 2009 (131)
20	ILLUMINA	ss153335118	Dec 01, 2009 (131)
21	GMI	ss156758109	Dec 01, 2009 (131)
22	ILLUMINA	ss159248905	Dec 01, 2009 (131)
23	COMPLETE_GENOMICS	ss166017215	Jul 04, 2010 (132)
24	ILLUMINA	ss170316596	Jul 04, 2010 (132)
25	ILLUMINA	ss172354463	Jul 04, 2010 (132)
26	BUSHMAN	ss197917473	Jul 04, 2010 (132)
27	1000GENOMES	ss220700556	Jul 14, 2010 (132)
28	1000GENOMES	ss232229723	Jul 14, 2010 (132)
29	1000GENOMES	ss239557674	Jul 15, 2010 (132)
30	BL	ss252880497	May 09, 2011 (134)
31	GMI	ss277543221	May 04, 2012 (137)
32	GMI	ss284831214	Apr 25, 2013 (138)
33	PJP	ss293056052	May 09, 2011 (134)
34	TISHKOFF	ss557262676	Apr 25, 2013 (138)
35	SSMP	ss651016831	Apr 25, 2013 (138)
36	ILLUMINA	ss825389962	Apr 01, 2015 (144)
37	ILLUMINA	ss832761177	Jul 13, 2019 (153)
38	EVA-GONL	ss979686653	Aug 21, 2014 (142)
39	JMKIDD_LAB	ss1071223634	Aug 21, 2014 (142)
40	1000GENOMES	ss1308145359	Aug 21, 2014 (142)
41	DDI	ss1429743785	Apr 01, 2015 (144)
42	EVA_DECODE	ss1589182859	Apr 01, 2015 (144)
43	EVA_UK10K_ALSPAC	ss1609265815	Apr 01, 2015 (144)
44	EVA_UK10K_TWINSUK	ss1652259848	Apr 01, 2015 (144)
45	EVA_SVP	ss1712646430	Apr 01, 2015 (144)
46	HAMMER_LAB	ss1800834116	Sep 08, 2015 (146)
47	WEILL_CORNELL_DGM	ss1922918231	Feb 12, 2016 (147)
48	GENOMED	ss1969639705	Jul 19, 2016 (147)
49	JJLAB	ss2022032603	Sep 14, 2016 (149)
50	USC_VALOUEV	ss2150139483	Dec 20, 2016 (150)
51	HUMAN_LONGEVITY	ss2259947075	Dec 20, 2016 (150)
52	SYSTEMSBIOZJU	ss2625516929	Nov 08, 2017 (151)
53	ILLUMINA	ss2635129487	Nov 08, 2017 (151)
54	GRF	ss2705574270	Nov 08, 2017 (151)
55	GNOMAD	ss2804853324	Nov 08, 2017 (151)
56	SWEGEN	ss2994015391	Nov 08, 2017 (151)
57	BIOINF_KMB_FNS_UNIBA	ss3024785590	Nov 08, 2017 (151)
58	CSHL	ss3345504348	Nov 08, 2017 (151)
59	ILLUMINA	ss3638468324	Oct 12, 2018 (152)
60	ILLUMINA	ss3639236455	Oct 12, 2018 (152)
61	ILLUMINA	ss3639638464	Oct 12, 2018 (152)
62	ILLUMINA	ss3643421192	Oct 12, 2018 (152)
63	URBANLAB	ss3647634890	Oct 12, 2018 (152)
64	EGCUT_WGS	ss3661954238	Jul 13, 2019 (153)
65	EVA_DECODE	ss3711266113	Jul 13, 2019 (153)
66	ACPOP	ss3730789723	Jul 13, 2019 (153)
67	EVA	ss3761303083	Jul 13, 2019 (153)
68	KHV_HUMAN_GENOMES	ss3804440828	Jul 13, 2019 (153)
69	EVA	ss3828333255	Apr 25, 2020 (154)
70	EVA	ss3837596675	Apr 25, 2020 (154)
71	EVA	ss3843030147	Apr 25, 2020 (154)
72	HGDP	ss3847738727	Apr 25, 2020 (154)
73	SGDP_PRJ	ss3858054003	Apr 25, 2020 (154)
74	KRGDB	ss3904188582	Apr 25, 2020 (154)
75	KOGIC	ss3953386129	Apr 25, 2020 (154)
76	EVA	ss3985048478	Apr 25, 2021 (155)
77	EVA	ss4017129524	Apr 25, 2021 (155)
78	TOPMED	ss4600663773	Apr 25, 2021 (155)
79	TOMMO_GENOMICS	ss5163887638	Apr 25, 2021 (155)
80	1000G_HIGH_COVERAGE	ss5257794122	Oct 13, 2022 (156)
81	EVA	ss5346466420	Oct 13, 2022 (156)
82	HUGCELL_USP	ss5456740898	Oct 13, 2022 (156)
83	EVA	ss5507371897	Oct 13, 2022 (156)
84	1000G_HIGH_COVERAGE	ss5538116473	Oct 13, 2022 (156)
85	SANFORD_IMAGENETICS	ss5634200892	Oct 13, 2022 (156)
86	TOMMO_GENOMICS	ss5697447386	Oct 13, 2022 (156)
87	YY_MCH	ss5804689384	Oct 13, 2022 (156)
88	EVA	ss5843448447	Oct 13, 2022 (156)
89	EVA	ss5854051102	Oct 13, 2022 (156)
90	EVA	ss5861874529	Oct 13, 2022 (156)
91	EVA	ss5962576680	Oct 13, 2022 (156)
92	EVA	ss5980201535	Oct 13, 2022 (156)
93	1000Genomes	NC_000004.11 - 3413209	Oct 12, 2018 (152)
94	1000Genomes_30x	NC_000004.12 - 3411482	Oct 13, 2022 (156)
95	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 3413209	Oct 12, 2018 (152)
96	Genetic variation in the Estonian population	NC_000004.11 - 3413209	Oct 12, 2018 (152)
97	gnomAD - Genomes	NC_000004.12 - 3411482	Apr 25, 2021 (155)
98	Genome of the Netherlands Release 5	NC_000004.11 - 3413209	Apr 25, 2020 (154)
99	HGDP-CEPH-db Supplement 1	NC_000004.10 - 3383007	Apr 25, 2020 (154)
100	HapMap	NC_000004.12 - 3411482	Apr 25, 2020 (154)
101	KOREAN population from KRGDB	NC_000004.11 - 3413209	Apr 25, 2020 (154)
102	Korean Genome Project	NC_000004.12 - 3411482	Apr 25, 2020 (154)
103	Northern Sweden	NC_000004.11 - 3413209	Jul 13, 2019 (153)
104	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000004.11 - 3413209	Apr 25, 2021 (155)
105	Qatari	NC_000004.11 - 3413209	Apr 25, 2020 (154)
106	SGDP_PRJ	NC_000004.11 - 3413209	Apr 25, 2020 (154)
107	Siberian	NC_000004.11 - 3413209	Apr 25, 2020 (154)
108	8.3KJPN	NC_000004.11 - 3413209	Apr 25, 2021 (155)
109	14KJPN	NC_000004.12 - 3411482	Oct 13, 2022 (156)
110	TopMed	NC_000004.12 - 3411482	Apr 25, 2021 (155)
111	UK 10K study - Twins	NC_000004.11 - 3413209	Oct 12, 2018 (152)
112	A Vietnamese Genetic Variation Database	NC_000004.11 - 3413209	Jul 13, 2019 (153)
113	ALFA	NC_000004.12 - 3411482	Apr 25, 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)
rs60952824	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
11365976, ss3904188582	NC_000004.11:3413208:T:A	NC_000004.12:3411481:T:A	(self)
ss3639236455, ss3639638464	NC_000004.9:3450177:T:C	NC_000004.12:3411481:T:C	(self)
416619, ss92442867, ss166017215, ss197917473, ss252880497, ss277543221, ss284831214, ss293056052, ss825389962, ss1589182859, ss1712646430, ss2635129487, ss3643421192, ss3847738727	NC_000004.10:3383006:T:C	NC_000004.12:3411481:T:C	(self)
19485133, 10860625, 7692486, 4771724, 11365976, 4074588, 274405, 4960161, 10070983, 2655837, 21856945, 10860625, 2373024, ss220700556, ss232229723, ss239557674, ss557262676, ss651016831, ss832761177, ss979686653, ss1071223634, ss1308145359, ss1429743785, ss1609265815, ss1652259848, ss1800834116, ss1922918231, ss1969639705, ss2022032603, ss2150139483, ss2625516929, ss2705574270, ss2804853324, ss2994015391, ss3345504348, ss3638468324, ss3661954238, ss3730789723, ss3761303083, ss3828333255, ss3837596675, ss3858054003, ss3904188582, ss3985048478, ss4017129524, ss5163887638, ss5346466420, ss5507371897, ss5634200892, ss5843448447, ss5962576680, ss5980201535	NC_000004.11:3413208:T:C	NC_000004.12:3411481:T:C	(self)
25642408, 138334728, 2544981, 9764130, 31284490, 438041329, 6688174939, ss2259947075, ss3024785590, ss3647634890, ss3711266113, ss3804440828, ss3843030147, ss3953386129, ss4600663773, ss5257794122, ss5456740898, ss5538116473, ss5697447386, ss5804689384, ss5854051102, ss5861874529	NC_000004.12:3411481:T:C	NC_000004.12:3411481:T:C	(self)
ss2089201, ss23895161, ss66574965, ss67064497, ss67392759, ss70420688, ss70597791, ss71142456, ss74942005, ss83717762, ss98927151, ss104033213, ss121627547, ss139400662, ss143834897, ss153335118, ss156758109, ss159248905, ss170316596, ss172354463	NT_006051.18:1934562:T:C	NC_000004.12:3411481:T:C	(self)
ss10150683	NT_006081.15:517881:T:C	NC_000004.12:3411481:T:C	(self)
ss17035947, ss22141768	NT_006081.16:799750:T:C	NC_000004.12:3411481:T:C	(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 rs1320763

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

rs1320763