Name: rs1912512
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.

rs1912512

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chrX:135536821 (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>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.171438 (45378/264690, TOPMED)
A=0.08468 (5173/61086, ALFA)
A=0.18769 (4171/22223, 14KJPN) (+ 10 more)
A=0.18726 (2405/12843, 8.3KJPN)
A=0.1988 (955/4805, 1000G_30x)
A=0.1952 (737/3775, 1000G)
A=0.1660 (486/2928, KOREAN)
A=0.2082 (393/1888, HapMap)
A=0.044 (21/478, SGDP_PRJ)
A=0.222 (24/108, Qatari)
A=0.02 (1/52, Siberian)
A=0.15 (7/48, Vietnamese)
A=0.03 (1/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: INTS6L : 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	61086	A=0.08468	G=0.91532
European	Sub	45480	A=0.04252	G=0.95748
African	Sub	5558	A=0.3971	G=0.6029
African Others	Sub	178	A=0.494	G=0.506
African American	Sub	5380	A=0.3939	G=0.6061
Asian	Sub	492	A=0.213	G=0.787
East Asian	Sub	396	A=0.189	G=0.811
Other Asian	Sub	96	A=0.31	G=0.69
Latin American 1	Sub	352	A=0.165	G=0.835
Latin American 2	Sub	5148	A=0.1070	G=0.8930
South Asian	Sub	160	A=0.087	G=0.912
Other	Sub	3896	A=0.0780	G=0.9220

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=0.171438	G=0.828562
Allele Frequency Aggregator	Total	Global	61086	A=0.08468	G=0.91532
Allele Frequency Aggregator	European	Sub	45480	A=0.04252	G=0.95748
Allele Frequency Aggregator	African	Sub	5558	A=0.3971	G=0.6029
Allele Frequency Aggregator	Latin American 2	Sub	5148	A=0.1070	G=0.8930
Allele Frequency Aggregator	Other	Sub	3896	A=0.0780	G=0.9220
Allele Frequency Aggregator	Asian	Sub	492	A=0.213	G=0.787
Allele Frequency Aggregator	Latin American 1	Sub	352	A=0.165	G=0.835
Allele Frequency Aggregator	South Asian	Sub	160	A=0.087	G=0.912
14KJPN	JAPANESE	Study-wide	22223	A=0.18769	G=0.81231
8.3KJPN	JAPANESE	Study-wide	12843	A=0.18726	G=0.81274
1000Genomes_30x	Global	Study-wide	4805	A=0.1988	G=0.8012
1000Genomes_30x	African	Sub	1328	A=0.4209	G=0.5791
1000Genomes_30x	Europe	Sub	961	A=0.045	G=0.955
1000Genomes_30x	South Asian	Sub	883	A=0.154	G=0.846
1000Genomes_30x	East Asian	Sub	878	A=0.156	G=0.844
1000Genomes_30x	American	Sub	755	A=0.106	G=0.894
1000Genomes	Global	Study-wide	3775	A=0.1952	G=0.8048
1000Genomes	African	Sub	1003	A=0.4158	G=0.5842
1000Genomes	Europe	Sub	766	A=0.048	G=0.952
1000Genomes	East Asian	Sub	764	A=0.158	G=0.842
1000Genomes	South Asian	Sub	718	A=0.149	G=0.851
1000Genomes	American	Sub	524	A=0.105	G=0.895
KOREAN population from KRGDB	KOREAN	Study-wide	2928	A=0.1660	C=0.0000, G=0.8340, T=0.0000
HapMap	Global	Study-wide	1888	A=0.2082	G=0.7918
HapMap	American	Sub	770	A=0.148	G=0.852
HapMap	African	Sub	688	A=0.323	G=0.677
HapMap	Asian	Sub	254	A=0.197	G=0.803
HapMap	Europe	Sub	176	A=0.040	G=0.960
SGDP_PRJ	Global	Study-wide	478	A=0.044	G=0.956
Qatari	Global	Study-wide	108	A=0.222	G=0.778
Siberian	Global	Study-wide	52	A=0.02	G=0.98
A Vietnamese Genetic Variation Database	Global	Study-wide	48	A=0.15	G=0.85
The Danish reference pan genome	Danish	Study-wide	40	A=0.03	G=0.97

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 X	NC_000023.11:g.135536821A>C
GRCh38.p14 chr X	NC_000023.11:g.135536821A>G
GRCh38.p14 chr X	NC_000023.11:g.135536821A>T
GRCh37.p13 chr X	NC_000023.10:g.134670746A>C
GRCh37.p13 chr X	NC_000023.10:g.134670746A>G
GRCh37.p13 chr X	NC_000023.10:g.134670746A>T
INTS6L RefSeqGene	NG_055290.1:g.21196A>C
INTS6L RefSeqGene	NG_055290.1:g.21196A>G
INTS6L RefSeqGene	NG_055290.1:g.21196A>T
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.467964A>C
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.467964A>G
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.467964A>T

Gene: INTS6L, integrator complex subunit 6 like (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
INTS6L transcript variant 2	NM_001351601.3:c.190-8602… NM_001351601.3:c.190-8602A>C	N/A	Intron Variant
INTS6L transcript variant 3	NM_001351603.3:c.190-8602… NM_001351603.3:c.190-8602A>C	N/A	Intron Variant
INTS6L transcript variant 4	NM_001351604.3:c.190-8602… NM_001351604.3:c.190-8602A>C	N/A	Intron Variant
INTS6L transcript variant 5	NM_001351605.3:c.190-8602… NM_001351605.3:c.190-8602A>C	N/A	Intron Variant
INTS6L transcript variant 6	NM_001351606.3:c.-334-860… NM_001351606.3:c.-334-8602A>C	N/A	Intron Variant
INTS6L transcript variant 1	NM_182540.7:c.190-8602A>C	N/A	Intron Variant
INTS6L transcript variant 7	NR_147256.3:n.	N/A	Intron Variant
INTS6L transcript variant X1	XM_006724740.3:c.190-8602… XM_006724740.3:c.190-8602A>C	N/A	Intron Variant
INTS6L transcript variant X2	XM_006724741.5:c.190-8602… XM_006724741.5:c.190-8602A>C	N/A	Intron Variant
INTS6L transcript variant X13	XM_011531311.3:c.190-8602… XM_011531311.3:c.190-8602A>C	N/A	Intron Variant
INTS6L transcript variant X12	XM_017029346.2:c.190-8602… XM_017029346.2:c.190-8602A>C	N/A	Intron Variant
INTS6L transcript variant X19	XM_017029349.2:c.190-8602… XM_017029349.2:c.190-8602A>C	N/A	Intron Variant
INTS6L transcript variant X3	XM_024452350.2:c.190-8602… XM_024452350.2:c.190-8602A>C	N/A	Intron Variant
INTS6L transcript variant X4	XM_047441904.1:c.-30-8602… XM_047441904.1:c.-30-8602A>C	N/A	Intron Variant
INTS6L transcript variant X5	XM_047441905.1:c.-30-8602… XM_047441905.1:c.-30-8602A>C	N/A	Intron Variant
INTS6L transcript variant X6	XM_047441906.1:c.-30-8602… XM_047441906.1:c.-30-8602A>C	N/A	Intron Variant
INTS6L transcript variant X7	XM_047441907.1:c.-30-8602… XM_047441907.1:c.-30-8602A>C	N/A	Intron Variant
INTS6L transcript variant X8	XM_047441908.1:c.-30-8602… XM_047441908.1:c.-30-8602A>C	N/A	Intron Variant
INTS6L transcript variant X9	XM_047441909.1:c.-30-8602… XM_047441909.1:c.-30-8602A>C	N/A	Intron Variant
INTS6L transcript variant X10	XM_047441910.1:c.190-8602… XM_047441910.1:c.190-8602A>C	N/A	Intron Variant
INTS6L transcript variant X15	XM_047441912.1:c.190-8602… XM_047441912.1:c.190-8602A>C	N/A	Intron Variant
INTS6L transcript variant X17	XM_047441913.1:c.190-8602… XM_047441913.1:c.190-8602A>C	N/A	Intron Variant
INTS6L transcript variant X11	XM_047441911.1:c.	N/A	Genic Upstream Transcript Variant
INTS6L transcript variant X16	XR_001755666.2:n.	N/A	Intron Variant
INTS6L transcript variant X18	XR_001755668.2:n.	N/A	Intron Variant
INTS6L transcript variant X14	XR_007068183.1:n.	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	A=	C	G	T
GRCh38.p14 chr X	NC_000023.11:g.135536821=	NC_000023.11:g.135536821A>C	NC_000023.11:g.135536821A>G	NC_000023.11:g.135536821A>T
GRCh37.p13 chr X	NC_000023.10:g.134670746=	NC_000023.10:g.134670746A>C	NC_000023.10:g.134670746A>G	NC_000023.10:g.134670746A>T
INTS6L RefSeqGene	NG_055290.1:g.21196=	NG_055290.1:g.21196A>C	NG_055290.1:g.21196A>G	NG_055290.1:g.21196A>T
GRCh37.p13 chr X fix patch HG1443_HG1444_PATCH	NW_004070887.1:g.467964=	NW_004070887.1:g.467964A>C	NW_004070887.1:g.467964A>G	NW_004070887.1:g.467964A>T
INTS6L transcript variant 2	NM_001351601.3:c.190-8602=	NM_001351601.3:c.190-8602A>C	NM_001351601.3:c.190-8602A>G	NM_001351601.3:c.190-8602A>T
INTS6L transcript variant 3	NM_001351603.3:c.190-8602=	NM_001351603.3:c.190-8602A>C	NM_001351603.3:c.190-8602A>G	NM_001351603.3:c.190-8602A>T
INTS6L transcript variant 4	NM_001351604.3:c.190-8602=	NM_001351604.3:c.190-8602A>C	NM_001351604.3:c.190-8602A>G	NM_001351604.3:c.190-8602A>T
INTS6L transcript variant 5	NM_001351605.3:c.190-8602=	NM_001351605.3:c.190-8602A>C	NM_001351605.3:c.190-8602A>G	NM_001351605.3:c.190-8602A>T
INTS6L transcript variant 6	NM_001351606.3:c.-334-8602=	NM_001351606.3:c.-334-8602A>C	NM_001351606.3:c.-334-8602A>G	NM_001351606.3:c.-334-8602A>T
INTS6L transcript	NM_182540.4:c.190-8602=	NM_182540.4:c.190-8602A>C	NM_182540.4:c.190-8602A>G	NM_182540.4:c.190-8602A>T
INTS6L transcript variant 1	NM_182540.7:c.190-8602=	NM_182540.7:c.190-8602A>C	NM_182540.7:c.190-8602A>G	NM_182540.7:c.190-8602A>T
DDX26B transcript variant X1	XM_005262393.1:c.190-8602=	XM_005262393.1:c.190-8602A>C	XM_005262393.1:c.190-8602A>G	XM_005262393.1:c.190-8602A>T
DDX26B transcript variant X2	XM_005262394.1:c.190-8602=	XM_005262394.1:c.190-8602A>C	XM_005262394.1:c.190-8602A>G	XM_005262394.1:c.190-8602A>T
DDX26B transcript variant X1	XM_005278132.1:c.190-8602=	XM_005278132.1:c.190-8602A>C	XM_005278132.1:c.190-8602A>G	XM_005278132.1:c.190-8602A>T
DDX26B transcript variant X2	XM_005278133.1:c.190-8602=	XM_005278133.1:c.190-8602A>C	XM_005278133.1:c.190-8602A>G	XM_005278133.1:c.190-8602A>T
INTS6L transcript variant X1	XM_006724740.3:c.190-8602=	XM_006724740.3:c.190-8602A>C	XM_006724740.3:c.190-8602A>G	XM_006724740.3:c.190-8602A>T
INTS6L transcript variant X2	XM_006724741.5:c.190-8602=	XM_006724741.5:c.190-8602A>C	XM_006724741.5:c.190-8602A>G	XM_006724741.5:c.190-8602A>T
INTS6L transcript variant X13	XM_011531311.3:c.190-8602=	XM_011531311.3:c.190-8602A>C	XM_011531311.3:c.190-8602A>G	XM_011531311.3:c.190-8602A>T
INTS6L transcript variant X12	XM_017029346.2:c.190-8602=	XM_017029346.2:c.190-8602A>C	XM_017029346.2:c.190-8602A>G	XM_017029346.2:c.190-8602A>T
INTS6L transcript variant X19	XM_017029349.2:c.190-8602=	XM_017029349.2:c.190-8602A>C	XM_017029349.2:c.190-8602A>G	XM_017029349.2:c.190-8602A>T
INTS6L transcript variant X3	XM_024452350.2:c.190-8602=	XM_024452350.2:c.190-8602A>C	XM_024452350.2:c.190-8602A>G	XM_024452350.2:c.190-8602A>T
INTS6L transcript variant X4	XM_047441904.1:c.-30-8602=	XM_047441904.1:c.-30-8602A>C	XM_047441904.1:c.-30-8602A>G	XM_047441904.1:c.-30-8602A>T
INTS6L transcript variant X5	XM_047441905.1:c.-30-8602=	XM_047441905.1:c.-30-8602A>C	XM_047441905.1:c.-30-8602A>G	XM_047441905.1:c.-30-8602A>T
INTS6L transcript variant X6	XM_047441906.1:c.-30-8602=	XM_047441906.1:c.-30-8602A>C	XM_047441906.1:c.-30-8602A>G	XM_047441906.1:c.-30-8602A>T
INTS6L transcript variant X7	XM_047441907.1:c.-30-8602=	XM_047441907.1:c.-30-8602A>C	XM_047441907.1:c.-30-8602A>G	XM_047441907.1:c.-30-8602A>T
INTS6L transcript variant X8	XM_047441908.1:c.-30-8602=	XM_047441908.1:c.-30-8602A>C	XM_047441908.1:c.-30-8602A>G	XM_047441908.1:c.-30-8602A>T
INTS6L transcript variant X9	XM_047441909.1:c.-30-8602=	XM_047441909.1:c.-30-8602A>C	XM_047441909.1:c.-30-8602A>G	XM_047441909.1:c.-30-8602A>T
INTS6L transcript variant X10	XM_047441910.1:c.190-8602=	XM_047441910.1:c.190-8602A>C	XM_047441910.1:c.190-8602A>G	XM_047441910.1:c.190-8602A>T
INTS6L transcript variant X15	XM_047441912.1:c.190-8602=	XM_047441912.1:c.190-8602A>C	XM_047441912.1:c.190-8602A>G	XM_047441912.1:c.190-8602A>T
INTS6L transcript variant X17	XM_047441913.1:c.190-8602=	XM_047441913.1:c.190-8602A>C	XM_047441913.1:c.190-8602A>G	XM_047441913.1:c.190-8602A>T

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#.

94 SubSNP, 13 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss2797321	Jan 12, 2001 (92)
2	SC_SNP	ss8209772	Apr 21, 2003 (114)
3	CSHL-HAPMAP	ss20395529	Feb 27, 2004 (120)
4	SSAHASNP	ss21025128	Apr 05, 2004 (123)
5	PERLEGEN	ss23833639	Sep 20, 2004 (123)
6	ABI	ss43537511	Mar 14, 2006 (126)
7	AFFY	ss66337445	Nov 30, 2006 (127)
8	PERLEGEN	ss69266528	May 17, 2007 (127)
9	ILLUMINA	ss75066037	Dec 07, 2007 (129)
10	AFFY	ss76039044	Dec 08, 2007 (130)
11	HGSV	ss77683714	Dec 07, 2007 (129)
12	HGSV	ss78574111	Dec 07, 2007 (129)
13	KRIBB_YJKIM	ss81623498	Dec 15, 2007 (130)
14	BCMHGSC_JDW	ss94407809	Mar 25, 2008 (129)
15	BGI	ss105766752	Feb 05, 2009 (130)
16	1000GENOMES	ss113028699	Jan 25, 2009 (130)
17	ILLUMINA-UK	ss115656755	Feb 14, 2009 (130)
18	ENSEMBL	ss134009085	Dec 01, 2009 (131)
19	ENSEMBL	ss144834356	Dec 01, 2009 (131)
20	GMI	ss157737248	Dec 01, 2009 (131)
21	ILLUMINA	ss160475761	Dec 01, 2009 (131)
22	COMPLETE_GENOMICS	ss163295465	Jul 04, 2010 (132)
23	COMPLETE_GENOMICS	ss166557486	Jul 04, 2010 (132)
24	AFFY	ss170719038	Jul 04, 2010 (132)
25	ILLUMINA	ss172982568	Jul 04, 2010 (132)
26	BUSHMAN	ss204375586	Jul 04, 2010 (132)
27	BCM-HGSC-SUB	ss208876722	Jul 04, 2010 (132)
28	1000GENOMES	ss212183756	Jul 14, 2010 (132)
29	BL	ss256144509	May 09, 2011 (134)
30	GMI	ss283876876	May 04, 2012 (137)
31	GMI	ss287649435	Apr 25, 2013 (138)
32	PJP	ss294510133	May 09, 2011 (134)
33	1000GENOMES	ss341821163	May 09, 2011 (134)
34	ILLUMINA	ss480340643	May 04, 2012 (137)
35	ILLUMINA	ss480352317	May 04, 2012 (137)
36	ILLUMINA	ss481118532	Sep 11, 2015 (146)
37	ILLUMINA	ss484967950	May 04, 2012 (137)
38	ILLUMINA	ss537007433	Sep 11, 2015 (146)
39	TISHKOFF	ss567055350	Apr 25, 2013 (138)
40	SSMP	ss663033771	Apr 25, 2013 (138)
41	ILLUMINA	ss779058424	Sep 11, 2015 (146)
42	ILLUMINA	ss782930285	Sep 11, 2015 (146)
43	ILLUMINA	ss783893099	Sep 11, 2015 (146)
44	ILLUMINA	ss832185662	Sep 11, 2015 (146)
45	ILLUMINA	ss834521541	Sep 11, 2015 (146)
46	JMKIDD_LAB	ss1083148331	Aug 21, 2014 (142)
47	DDI	ss1432125370	Apr 09, 2015 (144)
48	1000GENOMES	ss1556275950	Apr 09, 2015 (144)
49	EVA_GENOME_DK	ss1583516730	Apr 09, 2015 (144)
50	WEILL_CORNELL_DGM	ss1939749160	Feb 17, 2016 (147)
51	ILLUMINA	ss1958219471	Feb 17, 2016 (147)
52	GENOMED	ss1971439294	Sep 28, 2016 (149)
53	USC_VALOUEV	ss2159254485	Oct 12, 2018 (152)
54	HUMAN_LONGEVITY	ss2320567200	Dec 20, 2016 (150)
55	SYSTEMSBIOZJU	ss2629779537	Oct 12, 2018 (152)
56	GRF	ss2710369571	Oct 12, 2018 (152)
57	GNOMAD	ss2983686048	Oct 12, 2018 (152)
58	SWEGEN	ss3020665033	Oct 12, 2018 (152)
59	BIOINF_KMB_FNS_UNIBA	ss3029123569	Nov 08, 2017 (151)
60	ILLUMINA	ss3626002429	Oct 12, 2018 (152)
61	ILLUMINA	ss3630487476	Oct 12, 2018 (152)
62	ILLUMINA	ss3632870792	Oct 12, 2018 (152)
63	ILLUMINA	ss3633566343	Oct 12, 2018 (152)
64	ILLUMINA	ss3634296414	Oct 12, 2018 (152)
65	ILLUMINA	ss3635973478	Oct 12, 2018 (152)
66	ILLUMINA	ss3637008498	Oct 12, 2018 (152)
67	ILLUMINA	ss3638878725	Oct 12, 2018 (152)
68	ILLUMINA	ss3641261934	Oct 12, 2018 (152)
69	ILLUMINA	ss3641559840	Oct 12, 2018 (152)
70	ILLUMINA	ss3643802395	Oct 12, 2018 (152)
71	URBANLAB	ss3651337861	Oct 12, 2018 (152)
72	EVA	ss3770651387	Jul 14, 2019 (153)
73	PACBIO	ss3788956602	Jul 14, 2019 (153)
74	PACBIO	ss3793824730	Jul 14, 2019 (153)
75	PACBIO	ss3798709657	Jul 14, 2019 (153)
76	KHV_HUMAN_GENOMES	ss3823419731	Jul 14, 2019 (153)
77	EVA	ss3836326021	Apr 27, 2020 (154)
78	EVA	ss3841763122	Apr 27, 2020 (154)
79	EVA	ss3847299355	Apr 27, 2020 (154)
80	SGDP_PRJ	ss3892315162	Apr 27, 2020 (154)
81	KRGDB	ss3943027100	Apr 27, 2020 (154)
82	EVA	ss3984769509	Apr 27, 2021 (155)
83	TOPMED	ss5138313531	Apr 27, 2021 (155)
84	TOMMO_GENOMICS	ss5236388618	Apr 27, 2021 (155)
85	1000G_HIGH_COVERAGE	ss5314022853	Oct 17, 2022 (156)
86	EVA	ss5316099198	Oct 17, 2022 (156)
87	HUGCELL_USP	ss5505417684	Oct 17, 2022 (156)
88	1000G_HIGH_COVERAGE	ss5623165234	Oct 17, 2022 (156)
89	SANFORD_IMAGENETICS	ss5665928393	Oct 17, 2022 (156)
90	TOMMO_GENOMICS	ss5798798652	Oct 17, 2022 (156)
91	YY_MCH	ss5819374778	Oct 17, 2022 (156)
92	EVA	ss5848239047	Oct 17, 2022 (156)
93	EVA	ss5857207810	Oct 17, 2022 (156)
94	EVA	ss5979055177	Oct 17, 2022 (156)
95	1000Genomes	NC_000023.10 - 134670746	Oct 12, 2018 (152)
96	1000Genomes_30x	NC_000023.11 - 135536821	Oct 17, 2022 (156)
97	The Danish reference pan genome	NC_000023.10 - 134670746	Apr 27, 2020 (154)
98	HapMap	NC_000023.11 - 135536821	Apr 27, 2020 (154)
99	KOREAN population from KRGDB	NC_000023.10 - 134670746	Apr 27, 2020 (154)
100	Qatari	NC_000023.10 - 134670746	Apr 27, 2020 (154)
101	SGDP_PRJ	NC_000023.10 - 134670746	Apr 27, 2020 (154)
102	Siberian	NC_000023.10 - 134670746	Apr 27, 2020 (154)
103	8.3KJPN	NC_000023.10 - 134670746	Apr 27, 2021 (155)
104	14KJPN	NC_000023.11 - 135536821	Oct 17, 2022 (156)
105	TopMed	NC_000023.11 - 135536821	Apr 27, 2021 (155)
106	A Vietnamese Genetic Variation Database	NC_000023.10 - 134670746	Jul 14, 2019 (153)
107	ALFA	NC_000023.11 - 135536821	Apr 27, 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)
rs12849739	Sep 24, 2004 (123)
rs17001033	Oct 07, 2004 (123)
rs56555683	May 25, 2008 (130)
rs58581020	Feb 26, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
50204494, ss3943027100	NC_000023.10:134670745:A:C	NC_000023.11:135536820:A:C	(self)
ss77683714, ss78574111	NC_000023.8:134396265:A:G	NC_000023.11:135536820:A:G	(self)
ss66337445, ss76039044, ss94407809, ss113028699, ss115656755, ss163295465, ss166557486, ss170719038, ss204375586, ss208876722, ss212183756, ss256144509, ss283876876, ss287649435, ss294510133, ss480340643, ss3643802395	NC_000023.9:134498411:A:G	NC_000023.11:135536820:A:G	(self)
84233390, 9681667, 50204494, 21791082, 44332142, 11770839, 94357925, 10195844, ss341821163, ss480352317, ss481118532, ss484967950, ss537007433, ss567055350, ss663033771, ss779058424, ss782930285, ss783893099, ss832185662, ss834521541, ss1083148331, ss1432125370, ss1556275950, ss1583516730, ss1939749160, ss1958219471, ss1971439294, ss2159254485, ss2629779537, ss2710369571, ss2983686048, ss3020665033, ss3626002429, ss3630487476, ss3632870792, ss3633566343, ss3634296414, ss3635973478, ss3637008498, ss3638878725, ss3641261934, ss3641559840, ss3770651387, ss3788956602, ss3793824730, ss3798709657, ss3836326021, ss3841763122, ss3892315162, ss3943027100, ss3984769509, ss5236388618, ss5316099198, ss5665928393, ss5848239047, ss5979055177	NC_000023.10:134670745:A:G	NC_000023.11:135536820:A:G	(self)
110691169, 4040552, 132635756, 701919888, 14835077287, ss2320567200, ss3029123569, ss3651337861, ss3823419731, ss3847299355, ss5138313531, ss5314022853, ss5505417684, ss5623165234, ss5798798652, ss5819374778, ss5857207810	NC_000023.11:135536820:A:G	NC_000023.11:135536820:A:G	(self)
ss20395529, ss21025128	NT_011786.14:10248833:A:G	NC_000023.11:135536820:A:G	(self)
ss2797321, ss8209772, ss23833639, ss43537511, ss69266528, ss75066037, ss81623498, ss105766752, ss134009085, ss144834356, ss157737248, ss160475761, ss172982568	NT_011786.16:18938455:A:G	NC_000023.11:135536820:A:G	(self)
50204494, ss3943027100	NC_000023.10:134670745:A:T	NC_000023.11:135536820: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 rs1912512

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

rs1912512