Name: rs10487940
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.

rs10487940

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:70095436 (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: G>A / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.213899 (56617/264690, TOPMED)
A=0.219800 (30768/139982, GnomAD)
A=0.23742 (6709/28258, 14KJPN) (+ 16 more)
A=0.23801 (5987/25154, ALFA)
A=0.23768 (3983/16758, 8.3KJPN)
A=0.2038 (1305/6404, 1000G_30x)
A=0.2049 (1026/5008, 1000G)
A=0.2571 (1152/4480, Estonian)
A=0.2164 (634/2930, KOREAN)
A=0.2433 (507/2084, HGDP_Stanford)
A=0.2107 (386/1832, Korea1K)
A=0.236 (236/998, GoNL)
A=0.240 (144/600, NorthernSweden)
A=0.315 (68/216, Qatari)
G=0.416 (89/214, SGDP_PRJ)
A=0.154 (33/214, Vietnamese)
A=0.11 (8/74, Ancient Sardinia)
A=0.38 (15/40, GENOME_DK)
G=0.44 (14/32, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: AUTS2 : 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	25246	G=0.76163	A=0.23837
European	Sub	20376	G=0.75034	A=0.24966
African	Sub	2946	G=0.8340	A=0.1660
African Others	Sub	114	G=0.921	A=0.079
African American	Sub	2832	G=0.8305	A=0.1695
Asian	Sub	112	G=0.795	A=0.205
East Asian	Sub	86	G=0.79	A=0.21
Other Asian	Sub	26	G=0.81	A=0.19
Latin American 1	Sub	146	G=0.740	A=0.260
Latin American 2	Sub	610	G=0.821	A=0.179
South Asian	Sub	98	G=0.79	A=0.21
Other	Sub	958	G=0.738	A=0.262

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	G=0.786101	A=0.213899
gnomAD - Genomes	Global	Study-wide	139982	G=0.780200	A=0.219800
gnomAD - Genomes	European	Sub	75842	G=0.75272	A=0.24728
gnomAD - Genomes	African	Sub	41922	G=0.83562	A=0.16438
gnomAD - Genomes	American	Sub	13616	G=0.78371	A=0.21629
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.6927	A=0.3073
gnomAD - Genomes	East Asian	Sub	3128	G=0.7976	A=0.2024
gnomAD - Genomes	Other	Sub	2152	G=0.7565	A=0.2435
14KJPN	JAPANESE	Study-wide	28258	G=0.76258	A=0.23742
Allele Frequency Aggregator	Total	Global	25154	G=0.76199	A=0.23801
Allele Frequency Aggregator	European	Sub	20302	G=0.75071	A=0.24929
Allele Frequency Aggregator	African	Sub	2946	G=0.8340	A=0.1660
Allele Frequency Aggregator	Other	Sub	940	G=0.738	A=0.262
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.821	A=0.179
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.740	A=0.260
Allele Frequency Aggregator	Asian	Sub	112	G=0.795	A=0.205
Allele Frequency Aggregator	South Asian	Sub	98	G=0.79	A=0.21
8.3KJPN	JAPANESE	Study-wide	16758	G=0.76232	A=0.23768
1000Genomes_30x	Global	Study-wide	6404	G=0.7962	A=0.2038
1000Genomes_30x	African	Sub	1786	G=0.8371	A=0.1629
1000Genomes_30x	Europe	Sub	1266	G=0.7575	A=0.2425
1000Genomes_30x	South Asian	Sub	1202	G=0.7621	A=0.2379
1000Genomes_30x	East Asian	Sub	1170	G=0.8026	A=0.1974
1000Genomes_30x	American	Sub	980	G=0.806	A=0.194
1000Genomes	Global	Study-wide	5008	G=0.7951	A=0.2049
1000Genomes	African	Sub	1322	G=0.8351	A=0.1649
1000Genomes	East Asian	Sub	1008	G=0.7976	A=0.2024
1000Genomes	Europe	Sub	1006	G=0.7634	A=0.2366
1000Genomes	South Asian	Sub	978	G=0.760	A=0.240
1000Genomes	American	Sub	694	G=0.811	A=0.189
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.7429	A=0.2571
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.7836	A=0.2164
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	G=0.7567	A=0.2433
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	G=0.785	A=0.215
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	G=0.703	A=0.297
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	G=0.671	A=0.329
HGDP-CEPH-db Supplement 1	Europe	Sub	320	G=0.722	A=0.278
HGDP-CEPH-db Supplement 1	Africa	Sub	242	G=0.884	A=0.116
HGDP-CEPH-db Supplement 1	America	Sub	216	G=0.778	A=0.222
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	G=0.96	A=0.04
Korean Genome Project	KOREAN	Study-wide	1832	G=0.7893	A=0.2107
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.764	A=0.236
Northern Sweden	ACPOP	Study-wide	600	G=0.760	A=0.240
Qatari	Global	Study-wide	216	G=0.685	A=0.315
SGDP_PRJ	Global	Study-wide	214	G=0.416	A=0.584
A Vietnamese Genetic Variation Database	Global	Study-wide	214	G=0.846	A=0.154
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	74	G=0.89	A=0.11
The Danish reference pan genome	Danish	Study-wide	40	G=0.62	A=0.38
Siberian	Global	Study-wide	32	G=0.44	A=0.56

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 7	NC_000007.14:g.70095436G>A
GRCh38.p14 chr 7	NC_000007.14:g.70095436G>T
GRCh37.p13 chr 7	NC_000007.13:g.69560422G>A
GRCh37.p13 chr 7	NC_000007.13:g.69560422G>T
AUTS2 RefSeqGene	NG_034133.1:g.501518G>A
AUTS2 RefSeqGene	NG_034133.1:g.501518G>T

Gene: AUTS2, activator of transcription and developmental regulator AUTS2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
AUTS2 transcript variant 2	NM_001127231.3:c.523-2269… NM_001127231.3:c.523-22696G>A	N/A	Intron Variant
AUTS2 transcript variant 3	NM_001127232.3:c.523-2269… NM_001127232.3:c.523-22696G>A	N/A	Intron Variant
AUTS2 transcript variant 1	NM_015570.4:c.523-22696G>A	N/A	Intron Variant
AUTS2 transcript variant X1	XM_011516010.3:c.523-2269… XM_011516010.3:c.523-22696G>A	N/A	Intron Variant
AUTS2 transcript variant X2	XM_011516011.3:c.523-2269… XM_011516011.3:c.523-22696G>A	N/A	Intron Variant
AUTS2 transcript variant X4	XM_011516012.3:c.523-2269… XM_011516012.3:c.523-22696G>A	N/A	Intron Variant
AUTS2 transcript variant X6	XM_011516013.3:c.523-2269… XM_011516013.3:c.523-22696G>A	N/A	Intron Variant
AUTS2 transcript variant X8	XM_011516014.3:c.523-2269… XM_011516014.3:c.523-22696G>A	N/A	Intron Variant
AUTS2 transcript variant X15	XM_011516017.3:c.49-22696… XM_011516017.3:c.49-22696G>A	N/A	Intron Variant
AUTS2 transcript variant X23	XM_011516018.3:c.22-22696… XM_011516018.3:c.22-22696G>A	N/A	Intron Variant
AUTS2 transcript variant X3	XM_047420154.1:c.523-2269… XM_047420154.1:c.523-22696G>A	N/A	Intron Variant
AUTS2 transcript variant X5	XM_047420155.1:c.523-2269… XM_047420155.1:c.523-22696G>A	N/A	Intron Variant
AUTS2 transcript variant X7	XM_047420156.1:c.523-2269… XM_047420156.1:c.523-22696G>A	N/A	Intron Variant
AUTS2 transcript variant X9	XM_047420157.1:c.523-2269… XM_047420157.1:c.523-22696G>A	N/A	Intron Variant
AUTS2 transcript variant X10	XM_047420158.1:c.523-2269… XM_047420158.1:c.523-22696G>A	N/A	Intron Variant
AUTS2 transcript variant X11	XM_047420159.1:c.523-2269… XM_047420159.1:c.523-22696G>A	N/A	Intron Variant
AUTS2 transcript variant X12	XM_047420160.1:c.523-2269… XM_047420160.1:c.523-22696G>A	N/A	Intron Variant
AUTS2 transcript variant X13	XM_047420161.1:c.523-2269… XM_047420161.1:c.523-22696G>A	N/A	Intron Variant
AUTS2 transcript variant X14	XM_047420162.1:c.523-2269… XM_047420162.1:c.523-22696G>A	N/A	Intron Variant
AUTS2 transcript variant X16	XM_047420163.1:c.49-22696… XM_047420163.1:c.49-22696G>A	N/A	Intron Variant
AUTS2 transcript variant X17	XM_047420164.1:c.49-22696… XM_047420164.1:c.49-22696G>A	N/A	Intron Variant
AUTS2 transcript variant X18	XM_047420165.1:c.49-22696… XM_047420165.1:c.49-22696G>A	N/A	Intron Variant
AUTS2 transcript variant X19	XM_047420166.1:c.22-22696… XM_047420166.1:c.22-22696G>A	N/A	Intron Variant
AUTS2 transcript variant X20	XM_047420167.1:c.22-22696… XM_047420167.1:c.22-22696G>A	N/A	Intron Variant
AUTS2 transcript variant X21	XM_047420168.1:c.22-22696… XM_047420168.1:c.22-22696G>A	N/A	Intron Variant
AUTS2 transcript variant X22	XM_047420169.1:c.49-22696… XM_047420169.1:c.49-22696G>A	N/A	Intron Variant
AUTS2 transcript variant X24	XM_005250257.3:c.	N/A	Genic Upstream Transcript Variant
AUTS2 transcript variant X25	XM_047420170.1:c.	N/A	Genic Upstream Transcript Variant
AUTS2 transcript variant X26	XM_047420171.1: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	G=	A	T
GRCh38.p14 chr 7	NC_000007.14:g.70095436=	NC_000007.14:g.70095436G>A	NC_000007.14:g.70095436G>T
GRCh37.p13 chr 7	NC_000007.13:g.69560422=	NC_000007.13:g.69560422G>A	NC_000007.13:g.69560422G>T
AUTS2 RefSeqGene	NG_034133.1:g.501518=	NG_034133.1:g.501518G>A	NG_034133.1:g.501518G>T
AUTS2 transcript variant 2	NM_001127231.1:c.523-22696=	NM_001127231.1:c.523-22696G>A	NM_001127231.1:c.523-22696G>T
AUTS2 transcript variant 2	NM_001127231.3:c.523-22696=	NM_001127231.3:c.523-22696G>A	NM_001127231.3:c.523-22696G>T
AUTS2 transcript variant 3	NM_001127232.1:c.523-22696=	NM_001127232.1:c.523-22696G>A	NM_001127232.1:c.523-22696G>T
AUTS2 transcript variant 3	NM_001127232.3:c.523-22696=	NM_001127232.3:c.523-22696G>A	NM_001127232.3:c.523-22696G>T
AUTS2 transcript variant 1	NM_015570.2:c.523-22696=	NM_015570.2:c.523-22696G>A	NM_015570.2:c.523-22696G>T
AUTS2 transcript variant 1	NM_015570.4:c.523-22696=	NM_015570.4:c.523-22696G>A	NM_015570.4:c.523-22696G>T
AUTS2 transcript variant X1	XM_011516010.3:c.523-22696=	XM_011516010.3:c.523-22696G>A	XM_011516010.3:c.523-22696G>T
AUTS2 transcript variant X2	XM_011516011.3:c.523-22696=	XM_011516011.3:c.523-22696G>A	XM_011516011.3:c.523-22696G>T
AUTS2 transcript variant X4	XM_011516012.3:c.523-22696=	XM_011516012.3:c.523-22696G>A	XM_011516012.3:c.523-22696G>T
AUTS2 transcript variant X6	XM_011516013.3:c.523-22696=	XM_011516013.3:c.523-22696G>A	XM_011516013.3:c.523-22696G>T
AUTS2 transcript variant X8	XM_011516014.3:c.523-22696=	XM_011516014.3:c.523-22696G>A	XM_011516014.3:c.523-22696G>T
AUTS2 transcript variant X15	XM_011516017.3:c.49-22696=	XM_011516017.3:c.49-22696G>A	XM_011516017.3:c.49-22696G>T
AUTS2 transcript variant X23	XM_011516018.3:c.22-22696=	XM_011516018.3:c.22-22696G>A	XM_011516018.3:c.22-22696G>T
AUTS2 transcript variant X3	XM_047420154.1:c.523-22696=	XM_047420154.1:c.523-22696G>A	XM_047420154.1:c.523-22696G>T
AUTS2 transcript variant X5	XM_047420155.1:c.523-22696=	XM_047420155.1:c.523-22696G>A	XM_047420155.1:c.523-22696G>T
AUTS2 transcript variant X7	XM_047420156.1:c.523-22696=	XM_047420156.1:c.523-22696G>A	XM_047420156.1:c.523-22696G>T
AUTS2 transcript variant X9	XM_047420157.1:c.523-22696=	XM_047420157.1:c.523-22696G>A	XM_047420157.1:c.523-22696G>T
AUTS2 transcript variant X10	XM_047420158.1:c.523-22696=	XM_047420158.1:c.523-22696G>A	XM_047420158.1:c.523-22696G>T
AUTS2 transcript variant X11	XM_047420159.1:c.523-22696=	XM_047420159.1:c.523-22696G>A	XM_047420159.1:c.523-22696G>T
AUTS2 transcript variant X12	XM_047420160.1:c.523-22696=	XM_047420160.1:c.523-22696G>A	XM_047420160.1:c.523-22696G>T
AUTS2 transcript variant X13	XM_047420161.1:c.523-22696=	XM_047420161.1:c.523-22696G>A	XM_047420161.1:c.523-22696G>T
AUTS2 transcript variant X14	XM_047420162.1:c.523-22696=	XM_047420162.1:c.523-22696G>A	XM_047420162.1:c.523-22696G>T
AUTS2 transcript variant X16	XM_047420163.1:c.49-22696=	XM_047420163.1:c.49-22696G>A	XM_047420163.1:c.49-22696G>T
AUTS2 transcript variant X17	XM_047420164.1:c.49-22696=	XM_047420164.1:c.49-22696G>A	XM_047420164.1:c.49-22696G>T
AUTS2 transcript variant X18	XM_047420165.1:c.49-22696=	XM_047420165.1:c.49-22696G>A	XM_047420165.1:c.49-22696G>T
AUTS2 transcript variant X19	XM_047420166.1:c.22-22696=	XM_047420166.1:c.22-22696G>A	XM_047420166.1:c.22-22696G>T
AUTS2 transcript variant X20	XM_047420167.1:c.22-22696=	XM_047420167.1:c.22-22696G>A	XM_047420167.1:c.22-22696G>T
AUTS2 transcript variant X21	XM_047420168.1:c.22-22696=	XM_047420168.1:c.22-22696G>A	XM_047420168.1:c.22-22696G>T
AUTS2 transcript variant X22	XM_047420169.1:c.49-22696=	XM_047420169.1:c.49-22696G>A	XM_047420169.1:c.49-22696G>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#.

68 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	PERLEGEN	ss14874429	Dec 05, 2003 (119)
2	SSAHASNP	ss22608602	Apr 05, 2004 (121)
3	SSAHASNP	ss22916575	Apr 05, 2004 (121)
4	PERLEGEN	ss24443447	Sep 20, 2004 (123)
5	ABI	ss42997404	Mar 13, 2006 (126)
6	AFFY	ss65969734	Nov 29, 2006 (127)
7	ILLUMINA	ss70481992	May 24, 2008 (130)
8	HUMANGENOME_JCVI	ss98160610	Feb 04, 2009 (130)
9	ILLUMINA	ss107694430	Feb 04, 2009 (130)
10	1000GENOMES	ss112155627	Jan 25, 2009 (130)
11	ENSEMBL	ss144060128	Dec 01, 2009 (131)
12	1000GENOMES	ss223129958	Jul 14, 2010 (132)
13	1000GENOMES	ss234021722	Jul 15, 2010 (132)
14	1000GENOMES	ss240967540	Jul 15, 2010 (132)
15	BL	ss254412793	May 09, 2011 (134)
16	GMI	ss279378968	May 04, 2012 (137)
17	PJP	ss293890262	May 09, 2011 (134)
18	TISHKOFF	ss560064011	Apr 25, 2013 (138)
19	SSMP	ss654452350	Apr 25, 2013 (138)
20	EVA-GONL	ss984385630	Aug 21, 2014 (142)
21	JMKIDD_LAB	ss1074684330	Aug 21, 2014 (142)
22	1000GENOMES	ss1325549645	Aug 21, 2014 (142)
23	DDI	ss1431164729	Apr 01, 2015 (144)
24	EVA_GENOME_DK	ss1582247026	Apr 01, 2015 (144)
25	EVA_DECODE	ss1593957921	Apr 01, 2015 (144)
26	EVA_SVP	ss1712961054	Apr 01, 2015 (144)
27	WEILL_CORNELL_DGM	ss1927644121	Feb 12, 2016 (147)
28	GENOMED	ss1970726505	Jul 19, 2016 (147)
29	JJLAB	ss2024505537	Sep 14, 2016 (149)
30	USC_VALOUEV	ss2152721340	Dec 20, 2016 (150)
31	HUMAN_LONGEVITY	ss2294629568	Dec 20, 2016 (150)
32	SYSTEMSBIOZJU	ss2626743529	Nov 08, 2017 (151)
33	GRF	ss2708416972	Nov 08, 2017 (151)
34	GNOMAD	ss2854412280	Nov 08, 2017 (151)
35	AFFY	ss2985408880	Nov 08, 2017 (151)
36	AFFY	ss2986039830	Nov 08, 2017 (151)
37	SWEGEN	ss3001372623	Nov 08, 2017 (151)
38	BIOINF_KMB_FNS_UNIBA	ss3026046810	Nov 08, 2017 (151)
39	CSHL	ss3347660480	Nov 08, 2017 (151)
40	URBANLAB	ss3648666000	Oct 12, 2018 (152)
41	ILLUMINA	ss3654169920	Oct 12, 2018 (152)
42	EGCUT_WGS	ss3669151821	Jul 13, 2019 (153)
43	EVA_DECODE	ss3719912732	Jul 13, 2019 (153)
44	ACPOP	ss3734729944	Jul 13, 2019 (153)
45	EVA	ss3766690618	Jul 13, 2019 (153)
46	KHV_HUMAN_GENOMES	ss3809859779	Jul 13, 2019 (153)
47	EVA	ss3830627919	Apr 26, 2020 (154)
48	EVA	ss3838808589	Apr 26, 2020 (154)
49	EVA	ss3844262978	Apr 26, 2020 (154)
50	HGDP	ss3847879255	Apr 26, 2020 (154)
51	SGDP_PRJ	ss3867542807	Apr 26, 2020 (154)
52	KRGDB	ss3914770537	Apr 26, 2020 (154)
53	KOGIC	ss3961780651	Apr 26, 2020 (154)
54	EVA	ss3985301031	Apr 26, 2021 (155)
55	TOPMED	ss4749522542	Apr 26, 2021 (155)
56	TOMMO_GENOMICS	ss5183706874	Apr 26, 2021 (155)
57	1000G_HIGH_COVERAGE	ss5273314937	Oct 15, 2022 (156)
58	EVA	ss5374225911	Oct 15, 2022 (156)
59	HUGCELL_USP	ss5470379105	Oct 15, 2022 (156)
60	EVA	ss5508998002	Oct 15, 2022 (156)
61	1000G_HIGH_COVERAGE	ss5561718518	Oct 15, 2022 (156)
62	SANFORD_IMAGENETICS	ss5643184413	Oct 15, 2022 (156)
63	TOMMO_GENOMICS	ss5724126614	Oct 15, 2022 (156)
64	YY_MCH	ss5808748016	Oct 15, 2022 (156)
65	EVA	ss5822984693	Oct 15, 2022 (156)
66	EVA	ss5855941610	Oct 15, 2022 (156)
67	EVA	ss5859312862	Oct 15, 2022 (156)
68	EVA	ss5972369789	Oct 15, 2022 (156)
69	1000Genomes	NC_000007.13 - 69560422	Oct 12, 2018 (152)
70	1000Genomes_30x	NC_000007.14 - 70095436	Oct 15, 2022 (156)
71	Genetic variation in the Estonian population	NC_000007.13 - 69560422	Oct 12, 2018 (152)
72	The Danish reference pan genome	NC_000007.13 - 69560422	Apr 26, 2020 (154)
73	gnomAD - Genomes	NC_000007.14 - 70095436	Apr 26, 2021 (155)
74	Genome of the Netherlands Release 5	NC_000007.13 - 69560422	Apr 26, 2020 (154)
75	HGDP-CEPH-db Supplement 1	NC_000007.12 - 69198358	Apr 26, 2020 (154)
76	KOREAN population from KRGDB	NC_000007.13 - 69560422	Apr 26, 2020 (154)
77	Korean Genome Project	NC_000007.14 - 70095436	Apr 26, 2020 (154)
78	Northern Sweden	NC_000007.13 - 69560422	Jul 13, 2019 (153)
79	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000007.13 - 69560422	Apr 26, 2021 (155)
80	Qatari	NC_000007.13 - 69560422	Apr 26, 2020 (154)
81	SGDP_PRJ	NC_000007.13 - 69560422	Apr 26, 2020 (154)
82	Siberian	NC_000007.13 - 69560422	Apr 26, 2020 (154)
83	8.3KJPN	NC_000007.13 - 69560422	Apr 26, 2021 (155)
84	14KJPN	NC_000007.14 - 70095436	Oct 15, 2022 (156)
85	TopMed	NC_000007.14 - 70095436	Apr 26, 2021 (155)
86	A Vietnamese Genetic Variation Database	NC_000007.13 - 69560422	Jul 13, 2019 (153)
87	ALFA	NC_000007.14 - 70095436	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)
rs17365564	Oct 07, 2004 (123)
rs117077431	Aug 16, 2010 (132)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
557147, ss112155627, ss254412793, ss279378968, ss293890262, ss1593957921, ss1712961054, ss3847879255	NC_000007.12:69198357:G:A	NC_000007.14:70095435:G:A	(self)
37533489, 14890069, 8411965, 9330451, 21947931, 8014809, 526958, 9686051, 19559787, 5237694, 41676181, 4659780, ss223129958, ss234021722, ss240967540, ss560064011, ss654452350, ss984385630, ss1074684330, ss1325549645, ss1431164729, ss1582247026, ss1927644121, ss1970726505, ss2024505537, ss2152721340, ss2626743529, ss2708416972, ss2854412280, ss2985408880, ss2986039830, ss3001372623, ss3347660480, ss3654169920, ss3669151821, ss3734729944, ss3766690618, ss3830627919, ss3838808589, ss3867542807, ss3914770537, ss3985301031, ss5183706874, ss5374225911, ss5508998002, ss5643184413, ss5822984693, ss5972369789	NC_000007.13:69560421:G:A	NC_000007.14:70095435:G:A	(self)
49244453, 264652180, 18158652, 57963718, 586900101, 1025748847, ss2294629568, ss3026046810, ss3648666000, ss3719912732, ss3809859779, ss3844262978, ss3961780651, ss4749522542, ss5273314937, ss5470379105, ss5561718518, ss5724126614, ss5808748016, ss5855941610, ss5859312862	NC_000007.14:70095435:G:A	NC_000007.14:70095435:G:A	(self)
ss22608602, ss22916575	NT_007758.10:7593691:G:A	NC_000007.14:70095435:G:A	(self)
ss14874429, ss24443447, ss42997404, ss65969734, ss70481992, ss98160610, ss107694430, ss144060128	NT_007933.15:7593264:G:A	NC_000007.14:70095435:G:A	(self)
ss42997404	NT_007933.15:7593264:G:T	NC_000007.14:70095435:G: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 rs10487940

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

rs10487940