Name: rs11260624
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.

rs11260624

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:1878070 (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: C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.233454 (61793/264690, TOPMED)
T=0.239268 (33510/140052, GnomAD)
T=0.17889 (5055/28258, 14KJPN) (+ 18 more)
T=0.25131 (6044/24050, ALFA)
T=0.17792 (2982/16760, 8.3KJPN)
T=0.1811 (1160/6404, 1000G_30x)
T=0.1771 (887/5008, 1000G)
T=0.2395 (1073/4480, Estonian)
T=0.2709 (1044/3854, ALSPAC)
T=0.2632 (976/3708, TWINSUK)
T=0.1604 (470/2930, KOREAN)
T=0.1892 (358/1892, HapMap)
T=0.1599 (293/1832, Korea1K)
T=0.2721 (308/1132, Daghestan)
T=0.255 (254/998, GoNL)
T=0.348 (209/600, NorthernSweden)
T=0.236 (51/216, Qatari)
T=0.120 (25/208, Vietnamese)
C=0.453 (67/148, SGDP_PRJ)
T=0.15 (6/40, GENOME_DK)
C=0.46 (12/26, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: GNB1 : 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	24050	C=0.74869	T=0.25131
European	Sub	18126	C=0.73728	T=0.26272
African	Sub	4090	C=0.7775	T=0.2225
African Others	Sub	148	C=0.770	T=0.230
African American	Sub	3942	C=0.7778	T=0.2222
Asian	Sub	120	C=0.783	T=0.217
East Asian	Sub	94	C=0.76	T=0.24
Other Asian	Sub	26	C=0.88	T=0.12
Latin American 1	Sub	160	C=0.844	T=0.156
Latin American 2	Sub	664	C=0.813	T=0.187
South Asian	Sub	98	C=0.80	T=0.20
Other	Sub	792	C=0.777	T=0.223

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	C=0.766546	T=0.233454
gnomAD - Genomes	Global	Study-wide	140052	C=0.760732	T=0.239268
gnomAD - Genomes	European	Sub	75872	C=0.73963	T=0.26037
gnomAD - Genomes	African	Sub	41954	C=0.77628	T=0.22372
gnomAD - Genomes	American	Sub	13628	C=0.80291	T=0.19709
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.7699	T=0.2301
gnomAD - Genomes	East Asian	Sub	3128	C=0.8555	T=0.1445
gnomAD - Genomes	Other	Sub	2146	C=0.7829	T=0.2171
14KJPN	JAPANESE	Study-wide	28258	C=0.82111	T=0.17889
Allele Frequency Aggregator	Total	Global	24050	C=0.74869	T=0.25131
Allele Frequency Aggregator	European	Sub	18126	C=0.73728	T=0.26272
Allele Frequency Aggregator	African	Sub	4090	C=0.7775	T=0.2225
Allele Frequency Aggregator	Other	Sub	792	C=0.777	T=0.223
Allele Frequency Aggregator	Latin American 2	Sub	664	C=0.813	T=0.187
Allele Frequency Aggregator	Latin American 1	Sub	160	C=0.844	T=0.156
Allele Frequency Aggregator	Asian	Sub	120	C=0.783	T=0.217
Allele Frequency Aggregator	South Asian	Sub	98	C=0.80	T=0.20
8.3KJPN	JAPANESE	Study-wide	16760	C=0.82208	T=0.17792
1000Genomes_30x	Global	Study-wide	6404	C=0.8189	T=0.1811
1000Genomes_30x	African	Sub	1786	C=0.8091	T=0.1909
1000Genomes_30x	Europe	Sub	1266	C=0.7630	T=0.2370
1000Genomes_30x	South Asian	Sub	1202	C=0.8785	T=0.1215
1000Genomes_30x	East Asian	Sub	1170	C=0.8308	T=0.1692
1000Genomes_30x	American	Sub	980	C=0.821	T=0.179
1000Genomes	Global	Study-wide	5008	C=0.8229	T=0.1771
1000Genomes	African	Sub	1322	C=0.8124	T=0.1876
1000Genomes	East Asian	Sub	1008	C=0.8373	T=0.1627
1000Genomes	Europe	Sub	1006	C=0.7694	T=0.2306
1000Genomes	South Asian	Sub	978	C=0.880	T=0.120
1000Genomes	American	Sub	694	C=0.818	T=0.182
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.7605	T=0.2395
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.7291	T=0.2709
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.7368	T=0.2632
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.8396	T=0.1604
HapMap	Global	Study-wide	1892	C=0.8108	T=0.1892
HapMap	American	Sub	770	C=0.817	T=0.183
HapMap	African	Sub	692	C=0.806	T=0.194
HapMap	Asian	Sub	254	C=0.831	T=0.169
HapMap	Europe	Sub	176	C=0.773	T=0.227
Korean Genome Project	KOREAN	Study-wide	1832	C=0.8401	T=0.1599
Genome-wide autozygosity in Daghestan	Global	Study-wide	1132	C=0.7279	T=0.2721
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	C=0.691	T=0.309
Genome-wide autozygosity in Daghestan	Near_East	Sub	142	C=0.725	T=0.275
Genome-wide autozygosity in Daghestan	Central Asia	Sub	120	C=0.825	T=0.175
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.676	T=0.324
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.89	T=0.11
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.78	T=0.22
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.745	T=0.255
Northern Sweden	ACPOP	Study-wide	600	C=0.652	T=0.348
Qatari	Global	Study-wide	216	C=0.764	T=0.236
A Vietnamese Genetic Variation Database	Global	Study-wide	208	C=0.880	T=0.120
SGDP_PRJ	Global	Study-wide	148	C=0.453	T=0.547
The Danish reference pan genome	Danish	Study-wide	40	C=0.85	T=0.15
Siberian	Global	Study-wide	26	C=0.46	T=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 1	NC_000001.11:g.1878070C>T
GRCh37.p13 chr 1	NC_000001.10:g.1809509C>T
GNB1 RefSeqGene	NG_047052.1:g.18048G>A

Gene: GNB1, G protein subunit beta 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GNB1 transcript variant 3	NM_001282538.2:c.-250+127… NM_001282538.2:c.-250+12750G>A	N/A	Intron Variant
GNB1 transcript variant 2	NM_001282539.2:c.-47+1275… NM_001282539.2:c.-47+12750G>A	N/A	Intron Variant
GNB1 transcript variant 1	NM_002074.5:c.-96+12750G>A	N/A	Intron Variant
GNB1 transcript variant X20	XM_017001060.3:c.-96+1275… XM_017001060.3:c.-96+12750G>A	N/A	Intron Variant
GNB1 transcript variant X26	XM_017001061.3:c.-47+1275… XM_017001061.3:c.-47+12750G>A	N/A	Intron Variant
GNB1 transcript variant X2	XM_024446495.2:c.-96+1229… XM_024446495.2:c.-96+12294G>A	N/A	Intron Variant
GNB1 transcript variant X1	XM_047418042.1:c.-255+171… XM_047418042.1:c.-255+1717G>A	N/A	Intron Variant
GNB1 transcript variant X3	XM_047418043.1:c.-242+171… XM_047418043.1:c.-242+1717G>A	N/A	Intron Variant
GNB1 transcript variant X4	XM_047418044.1:c.-422+171… XM_047418044.1:c.-422+1717G>A	N/A	Intron Variant
GNB1 transcript variant X5	XM_047418045.1:c.-257+171… XM_047418045.1:c.-257+1717G>A	N/A	Intron Variant
GNB1 transcript variant X6	XM_047418046.1:c.-581+171… XM_047418046.1:c.-581+1717G>A	N/A	Intron Variant
GNB1 transcript variant X7	XM_047418049.1:c.-242+127… XM_047418049.1:c.-242+12750G>A	N/A	Intron Variant
GNB1 transcript variant X8	XM_047418050.1:c.-470+171… XM_047418050.1:c.-470+1717G>A	N/A	Intron Variant
GNB1 transcript variant X9	XM_047418054.1:c.-581+127… XM_047418054.1:c.-581+12750G>A	N/A	Intron Variant
GNB1 transcript variant X10	XM_047418055.1:c.-242+122… XM_047418055.1:c.-242+12294G>A	N/A	Intron Variant
GNB1 transcript variant X11	XM_047418056.1:c.-470+122… XM_047418056.1:c.-470+12294G>A	N/A	Intron Variant
GNB1 transcript variant X12	XM_047418057.1:c.-894+171… XM_047418057.1:c.-894+1717G>A	N/A	Intron Variant
GNB1 transcript variant X13	XM_047418058.1:c.-581+122… XM_047418058.1:c.-581+12294G>A	N/A	Intron Variant
GNB1 transcript variant X14	XM_047418059.1:c.-401+171… XM_047418059.1:c.-401+1717G>A	N/A	Intron Variant
GNB1 transcript variant X15	XM_047418060.1:c.-512+122… XM_047418060.1:c.-512+12294G>A	N/A	Intron Variant
GNB1 transcript variant X16	XM_047418061.1:c.-422+127… XM_047418061.1:c.-422+12750G>A	N/A	Intron Variant
GNB1 transcript variant X17	XM_047418062.1:c.-401+122… XM_047418062.1:c.-401+12294G>A	N/A	Intron Variant
GNB1 transcript variant X18	XM_047418063.1:c.-257+171… XM_047418063.1:c.-257+1717G>A	N/A	Intron Variant
GNB1 transcript variant X21	XM_047418067.1:c.-242+171… XM_047418067.1:c.-242+1717G>A	N/A	Intron Variant
GNB1 transcript variant X22	XM_047418068.1:c.-96+1229… XM_047418068.1:c.-96+12294G>A	N/A	Intron Variant
GNB1 transcript variant X23	XM_047418069.1:c.-470+122… XM_047418069.1:c.-470+12294G>A	N/A	Intron Variant
GNB1 transcript variant X24	XM_047418070.1:c.-242+127… XM_047418070.1:c.-242+12750G>A	N/A	Intron Variant
GNB1 transcript variant X25	XM_047418071.1:c.-311+127… XM_047418071.1:c.-311+12750G>A	N/A	Intron Variant
GNB1 transcript variant X27	XM_047418072.1:c.-96+1275… XM_047418072.1:c.-96+12750G>A	N/A	Intron Variant
GNB1 transcript variant X28	XM_047418073.1:c.-242+127… XM_047418073.1:c.-242+12750G>A	N/A	Intron Variant
GNB1 transcript variant X29	XM_047418074.1:c.-96+1229… XM_047418074.1:c.-96+12294G>A	N/A	Intron Variant
GNB1 transcript variant X30	XM_047418076.1:c.-47+1275… XM_047418076.1:c.-47+12750G>A	N/A	Intron Variant
GNB1 transcript variant X31	XM_047418078.1:c.-47+1275… XM_047418078.1:c.-47+12750G>A	N/A	Intron Variant
GNB1 transcript variant X19	XM_017001059.3:c.	N/A	Genic Upstream 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	C=	T
GRCh38.p14 chr 1	NC_000001.11:g.1878070=	NC_000001.11:g.1878070C>T
GRCh37.p13 chr 1	NC_000001.10:g.1809509=	NC_000001.10:g.1809509C>T
GNB1 RefSeqGene	NG_047052.1:g.18048=	NG_047052.1:g.18048G>A
GNB1 transcript variant 3	NM_001282538.2:c.-250+12750=	NM_001282538.2:c.-250+12750G>A
GNB1 transcript variant 2	NM_001282539.2:c.-47+12750=	NM_001282539.2:c.-47+12750G>A
GNB1 transcript	NM_002074.3:c.-96+12750=	NM_002074.3:c.-96+12750G>A
GNB1 transcript variant 1	NM_002074.5:c.-96+12750=	NM_002074.5:c.-96+12750G>A
GNB1 transcript variant X1	XM_005244741.1:c.-47+12750=	XM_005244741.1:c.-47+12750G>A
GNB1 transcript variant X20	XM_017001060.3:c.-96+12750=	XM_017001060.3:c.-96+12750G>A
GNB1 transcript variant X26	XM_017001061.3:c.-47+12750=	XM_017001061.3:c.-47+12750G>A
GNB1 transcript variant X2	XM_024446495.2:c.-96+12294=	XM_024446495.2:c.-96+12294G>A
GNB1 transcript variant X1	XM_047418042.1:c.-255+1717=	XM_047418042.1:c.-255+1717G>A
GNB1 transcript variant X3	XM_047418043.1:c.-242+1717=	XM_047418043.1:c.-242+1717G>A
GNB1 transcript variant X4	XM_047418044.1:c.-422+1717=	XM_047418044.1:c.-422+1717G>A
GNB1 transcript variant X5	XM_047418045.1:c.-257+1717=	XM_047418045.1:c.-257+1717G>A
GNB1 transcript variant X6	XM_047418046.1:c.-581+1717=	XM_047418046.1:c.-581+1717G>A
GNB1 transcript variant X7	XM_047418049.1:c.-242+12750=	XM_047418049.1:c.-242+12750G>A
GNB1 transcript variant X8	XM_047418050.1:c.-470+1717=	XM_047418050.1:c.-470+1717G>A
GNB1 transcript variant X9	XM_047418054.1:c.-581+12750=	XM_047418054.1:c.-581+12750G>A
GNB1 transcript variant X10	XM_047418055.1:c.-242+12294=	XM_047418055.1:c.-242+12294G>A
GNB1 transcript variant X11	XM_047418056.1:c.-470+12294=	XM_047418056.1:c.-470+12294G>A
GNB1 transcript variant X12	XM_047418057.1:c.-894+1717=	XM_047418057.1:c.-894+1717G>A
GNB1 transcript variant X13	XM_047418058.1:c.-581+12294=	XM_047418058.1:c.-581+12294G>A
GNB1 transcript variant X14	XM_047418059.1:c.-401+1717=	XM_047418059.1:c.-401+1717G>A
GNB1 transcript variant X15	XM_047418060.1:c.-512+12294=	XM_047418060.1:c.-512+12294G>A
GNB1 transcript variant X16	XM_047418061.1:c.-422+12750=	XM_047418061.1:c.-422+12750G>A
GNB1 transcript variant X17	XM_047418062.1:c.-401+12294=	XM_047418062.1:c.-401+12294G>A
GNB1 transcript variant X18	XM_047418063.1:c.-257+1717=	XM_047418063.1:c.-257+1717G>A
GNB1 transcript variant X21	XM_047418067.1:c.-242+1717=	XM_047418067.1:c.-242+1717G>A
GNB1 transcript variant X22	XM_047418068.1:c.-96+12294=	XM_047418068.1:c.-96+12294G>A
GNB1 transcript variant X23	XM_047418069.1:c.-470+12294=	XM_047418069.1:c.-470+12294G>A
GNB1 transcript variant X24	XM_047418070.1:c.-242+12750=	XM_047418070.1:c.-242+12750G>A
GNB1 transcript variant X25	XM_047418071.1:c.-311+12750=	XM_047418071.1:c.-311+12750G>A
GNB1 transcript variant X27	XM_047418072.1:c.-96+12750=	XM_047418072.1:c.-96+12750G>A
GNB1 transcript variant X28	XM_047418073.1:c.-242+12750=	XM_047418073.1:c.-242+12750G>A
GNB1 transcript variant X29	XM_047418074.1:c.-96+12294=	XM_047418074.1:c.-96+12294G>A
GNB1 transcript variant X30	XM_047418076.1:c.-47+12750=	XM_047418076.1:c.-47+12750G>A
GNB1 transcript variant X31	XM_047418078.1:c.-47+12750=	XM_047418078.1:c.-47+12750G>A

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#.

69 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	CSHL-HAPMAP	ss17367933	Feb 27, 2004 (120)
2	SC_SNP	ss18287708	Feb 27, 2004 (120)
3	ABI	ss41219741	Mar 14, 2006 (126)
4	ILLUMINA	ss75007779	Dec 07, 2007 (129)
5	HGSV	ss78611852	Dec 07, 2007 (129)
6	BCMHGSC_JDW	ss87162445	Mar 23, 2008 (129)
7	KRIBB_YJKIM	ss102648810	Feb 06, 2009 (130)
8	BGI	ss102713980	Dec 01, 2009 (131)
9	1000GENOMES	ss107939084	Jan 22, 2009 (130)
10	ENSEMBL	ss137756524	Dec 01, 2009 (131)
11	ENSEMBL	ss161194552	Dec 01, 2009 (131)
12	ILLUMINA	ss171233621	Jul 04, 2010 (132)
13	BUSHMAN	ss197897829	Jul 04, 2010 (132)
14	1000GENOMES	ss218193980	Jul 14, 2010 (132)
15	1000GENOMES	ss230397949	Jul 14, 2010 (132)
16	1000GENOMES	ss238117188	Jul 15, 2010 (132)
17	GMI	ss275684697	May 04, 2012 (137)
18	GMI	ss283988898	Apr 25, 2013 (138)
19	TISHKOFF	ss553719969	Apr 25, 2013 (138)
20	SSMP	ss647523118	Apr 25, 2013 (138)
21	EVA-GONL	ss974778527	Aug 21, 2014 (142)
22	JMKIDD_LAB	ss1067616853	Aug 21, 2014 (142)
23	1000GENOMES	ss1289379385	Aug 21, 2014 (142)
24	HAMMER_LAB	ss1397238534	Sep 08, 2015 (146)
25	DDI	ss1425687527	Apr 01, 2015 (144)
26	EVA_GENOME_DK	ss1573854075	Apr 01, 2015 (144)
27	EVA_DECODE	ss1584138247	Apr 01, 2015 (144)
28	EVA_UK10K_ALSPAC	ss1599393648	Apr 01, 2015 (144)
29	EVA_UK10K_TWINSUK	ss1642387681	Apr 01, 2015 (144)
30	EVA_SVP	ss1712305810	Apr 01, 2015 (144)
31	WEILL_CORNELL_DGM	ss1917971861	Feb 12, 2016 (147)
32	GENOMED	ss1966668586	Jul 19, 2016 (147)
33	JJLAB	ss2019502923	Sep 14, 2016 (149)
34	USC_VALOUEV	ss2147490748	Dec 20, 2016 (150)
35	HUMAN_LONGEVITY	ss2159432425	Dec 20, 2016 (150)
36	GRF	ss2697382081	Nov 08, 2017 (151)
37	GNOMAD	ss2750761018	Nov 08, 2017 (151)
38	AFFY	ss2985495192	Nov 08, 2017 (151)
39	SWEGEN	ss2986167589	Nov 08, 2017 (151)
40	BIOINF_KMB_FNS_UNIBA	ss3023515391	Nov 08, 2017 (151)
41	CSHL	ss3343278196	Nov 08, 2017 (151)
42	ILLUMINA	ss3637732873	Oct 11, 2018 (152)
43	ILLUMINA	ss3642747118	Oct 11, 2018 (152)
44	EGCUT_WGS	ss3654274743	Jul 12, 2019 (153)
45	EVA_DECODE	ss3686012487	Jul 12, 2019 (153)
46	ACPOP	ss3726724649	Jul 12, 2019 (153)
47	EVA	ss3745732261	Jul 12, 2019 (153)
48	KHV_HUMAN_GENOMES	ss3798755609	Jul 12, 2019 (153)
49	EVA	ss3825985730	Apr 25, 2020 (154)
50	EVA	ss3836380235	Apr 25, 2020 (154)
51	EVA	ss3841784306	Apr 25, 2020 (154)
52	SGDP_PRJ	ss3848023347	Apr 25, 2020 (154)
53	KRGDB	ss3892869435	Apr 25, 2020 (154)
54	KOGIC	ss3943654690	Apr 25, 2020 (154)
55	EVA	ss4016889367	Apr 25, 2021 (155)
56	TOPMED	ss4436756802	Apr 25, 2021 (155)
57	TOMMO_GENOMICS	ss5142106514	Apr 25, 2021 (155)
58	1000G_HIGH_COVERAGE	ss5240901874	Oct 12, 2022 (156)
59	EVA	ss5316246416	Oct 12, 2022 (156)
60	HUGCELL_USP	ss5442141083	Oct 12, 2022 (156)
61	EVA	ss5505749054	Oct 12, 2022 (156)
62	1000G_HIGH_COVERAGE	ss5512542094	Oct 12, 2022 (156)
63	SANFORD_IMAGENETICS	ss5624770444	Oct 12, 2022 (156)
64	TOMMO_GENOMICS	ss5666265887	Oct 12, 2022 (156)
65	YY_MCH	ss5800253167	Oct 12, 2022 (156)
66	EVA	ss5831433576	Oct 12, 2022 (156)
67	EVA	ss5848752157	Oct 12, 2022 (156)
68	EVA	ss5906741436	Oct 12, 2022 (156)
69	EVA	ss5936599986	Oct 12, 2022 (156)
70	1000Genomes	NC_000001.10 - 1809509	Oct 11, 2018 (152)
71	1000Genomes_30x	NC_000001.11 - 1878070	Oct 12, 2022 (156)
72	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 1809509	Oct 11, 2018 (152)
73	Genome-wide autozygosity in Daghestan	NC_000001.9 - 1799369	Apr 25, 2020 (154)
74	Genetic variation in the Estonian population	NC_000001.10 - 1809509	Oct 11, 2018 (152)
75	The Danish reference pan genome	NC_000001.10 - 1809509	Apr 25, 2020 (154)
76	gnomAD - Genomes	NC_000001.11 - 1878070	Apr 25, 2021 (155)
77	Genome of the Netherlands Release 5	NC_000001.10 - 1809509	Apr 25, 2020 (154)
78	HapMap	NC_000001.11 - 1878070	Apr 25, 2020 (154)
79	KOREAN population from KRGDB	NC_000001.10 - 1809509	Apr 25, 2020 (154)
80	Korean Genome Project	NC_000001.11 - 1878070	Apr 25, 2020 (154)
81	Northern Sweden	NC_000001.10 - 1809509	Jul 12, 2019 (153)
82	Qatari	NC_000001.10 - 1809509	Apr 25, 2020 (154)
83	SGDP_PRJ	NC_000001.10 - 1809509	Apr 25, 2020 (154)
84	Siberian	NC_000001.10 - 1809509	Apr 25, 2020 (154)
85	8.3KJPN	NC_000001.10 - 1809509	Apr 25, 2021 (155)
86	14KJPN	NC_000001.11 - 1878070	Oct 12, 2022 (156)
87	TopMed	NC_000001.11 - 1878070	Apr 25, 2021 (155)
88	UK 10K study - Twins	NC_000001.10 - 1809509	Oct 11, 2018 (152)
89	A Vietnamese Genetic Variation Database	NC_000001.10 - 1809509	Jul 12, 2019 (153)
90	ALFA	NC_000001.11 - 1878070	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss78611852	NC_000001.8:1841670:C:T	NC_000001.11:1878069:C:T	(self)
21, ss87162445, ss107939084, ss197897829, ss275684697, ss283988898, ss1397238534, ss1584138247, ss1712305810, ss3642747118	NC_000001.9:1799368:C:T	NC_000001.11:1878069:C:T	(self)
45467, 17289, 12991, 1361309, 7392, 46829, 9514, 13791, 40327, 7102, 75821, 17289, 3420, ss218193980, ss230397949, ss238117188, ss553719969, ss647523118, ss974778527, ss1067616853, ss1289379385, ss1425687527, ss1573854075, ss1599393648, ss1642387681, ss1917971861, ss1966668586, ss2019502923, ss2147490748, ss2697382081, ss2750761018, ss2985495192, ss2986167589, ss3343278196, ss3637732873, ss3654274743, ss3726724649, ss3745732261, ss3825985730, ss3836380235, ss3848023347, ss3892869435, ss4016889367, ss5142106514, ss5316246416, ss5505749054, ss5624770444, ss5831433576, ss5936599986	NC_000001.10:1809508:C:T	NC_000001.11:1878069:C:T	(self)
68029, 353979, 676, 32691, 102991, 363137, 8450501706, ss2159432425, ss3023515391, ss3686012487, ss3798755609, ss3841784306, ss3943654690, ss4436756802, ss5240901874, ss5442141083, ss5512542094, ss5666265887, ss5800253167, ss5848752157, ss5906741436	NC_000001.11:1878069:C:T	NC_000001.11:1878069:C:T	(self)
ss41219741, ss75007779, ss102648810, ss102713980, ss137756524, ss161194552, ss171233621	NT_004350.19:1288140:C:T	NC_000001.11:1878069:C:T	(self)
ss17367933, ss18287708	NT_077915.1:189853:C:T	NC_000001.11:1878069:C: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 rs11260624

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

rs11260624