Name: rs10975258
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.

rs10975258

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:5719116 (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>A / C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.333673 (88320/264690, TOPMED)
A=0.392425 (80477/205076, GENOGRAPHIC)
A=0.373359 (70084/187712, ALFA) (+ 22 more)
A=0.332907 (46545/139814, GnomAD)
C=0.24531 (6932/28258, 14KJPN)
C=0.24535 (4112/16760, 8.3KJPN)
A=0.3905 (2501/6404, 1000G_30x)
A=0.4002 (2004/5008, 1000G)
A=0.4583 (2053/4480, Estonian)
A=0.3941 (1519/3854, ALSPAC)
A=0.3994 (1481/3708, TWINSUK)
C=0.2549 (747/2930, KOREAN)
A=0.4654 (969/2082, HGDP_Stanford)
A=0.3782 (714/1888, HapMap)
C=0.2451 (449/1832, Korea1K)
A=0.3838 (436/1136, Daghestan)
A=0.390 (389/998, GoNL)
A=0.450 (270/600, NorthernSweden)
C=0.295 (111/376, SGDP_PRJ)
A=0.333 (72/216, Qatari)
C=0.267 (56/210, Vietnamese)
A=0.42 (17/40, GENOME_DK)
C=0.25 (10/40, Siberian)
C=0.5 (2/4, Ancient Sardinia)
A=0.5 (2/4, Ancient Sardinia)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RIC1 : Intron Variant
LOC124902115 : Non Coding Transcript 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	187712	C=0.626641	A=0.373359, T=0.000000
European	Sub	163486	C=0.614891	A=0.385109, T=0.000000
African	Sub	9120	C=0.8804	A=0.1196, T=0.0000
African Others	Sub	332	C=0.955	A=0.045, T=0.000
African American	Sub	8788	C=0.8776	A=0.1224, T=0.0000
Asian	Sub	598	C=0.261	A=0.739, T=0.000
East Asian	Sub	476	C=0.256	A=0.744, T=0.000
Other Asian	Sub	122	C=0.279	A=0.721, T=0.000
Latin American 1	Sub	708	C=0.713	A=0.287, T=0.000
Latin American 2	Sub	2412	C=0.5862	A=0.4138, T=0.0000
South Asian	Sub	4948	C=0.6025	A=0.3975, T=0.0000
Other	Sub	6440	C=0.6238	A=0.3762, T=0.0000

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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	C=0.666327	A=0.333673
Genographic Project	Global	Study-wide	205076	C=0.607575	A=0.392425
Allele Frequency Aggregator	Total	Global	187712	C=0.626641	A=0.373359, T=0.000000
Allele Frequency Aggregator	European	Sub	163486	C=0.614891	A=0.385109, T=0.000000
Allele Frequency Aggregator	African	Sub	9120	C=0.8804	A=0.1196, T=0.0000
Allele Frequency Aggregator	Other	Sub	6440	C=0.6238	A=0.3762, T=0.0000
Allele Frequency Aggregator	South Asian	Sub	4948	C=0.6025	A=0.3975, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	2412	C=0.5862	A=0.4138, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	708	C=0.713	A=0.287, T=0.000
Allele Frequency Aggregator	Asian	Sub	598	C=0.261	A=0.739, T=0.000
gnomAD - Genomes	Global	Study-wide	139814	C=0.667093	A=0.332907
gnomAD - Genomes	European	Sub	75718	C=0.60189	A=0.39811
gnomAD - Genomes	African	Sub	41886	C=0.85016	A=0.14984
gnomAD - Genomes	American	Sub	13630	C=0.57425	A=0.42575
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.6572	A=0.3428
gnomAD - Genomes	East Asian	Sub	3120	C=0.2173	A=0.7827
gnomAD - Genomes	Other	Sub	2140	C=0.6533	A=0.3467
14KJPN	JAPANESE	Study-wide	28258	C=0.24531	A=0.75469
8.3KJPN	JAPANESE	Study-wide	16760	C=0.24535	A=0.75465
1000Genomes_30x	Global	Study-wide	6404	C=0.6095	A=0.3905
1000Genomes_30x	African	Sub	1786	C=0.8768	A=0.1232
1000Genomes_30x	Europe	Sub	1266	C=0.6098	A=0.3902
1000Genomes_30x	South Asian	Sub	1202	C=0.6048	A=0.3952
1000Genomes_30x	East Asian	Sub	1170	C=0.2479	A=0.7521
1000Genomes_30x	American	Sub	980	C=0.559	A=0.441
1000Genomes	Global	Study-wide	5008	C=0.5998	A=0.4002
1000Genomes	African	Sub	1322	C=0.8805	A=0.1195
1000Genomes	East Asian	Sub	1008	C=0.2490	A=0.7510
1000Genomes	Europe	Sub	1006	C=0.6133	A=0.3867
1000Genomes	South Asian	Sub	978	C=0.598	A=0.402
1000Genomes	American	Sub	694	C=0.558	A=0.442
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.5417	A=0.4583
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.6059	A=0.3941
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.6006	A=0.3994
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.2549	A=0.7451, G=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2082	C=0.5346	A=0.4654
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.266	A=0.734
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.536	A=0.464
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.671	A=0.329
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.622	A=0.378
HGDP-CEPH-db Supplement 1	Africa	Sub	240	C=0.883	A=0.117
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.329	A=0.671
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.68	A=0.32
HapMap	Global	Study-wide	1888	C=0.6218	A=0.3782
HapMap	American	Sub	768	C=0.495	A=0.505
HapMap	African	Sub	692	C=0.893	A=0.107
HapMap	Asian	Sub	254	C=0.244	A=0.756
HapMap	Europe	Sub	174	C=0.655	A=0.345
Korean Genome Project	KOREAN	Study-wide	1832	C=0.2451	A=0.7549
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	C=0.6162	A=0.3838
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	C=0.642	A=0.358
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.674	A=0.326
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.492	A=0.508
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.537	A=0.463
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.59	A=0.41
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.67	A=0.33
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.610	A=0.390
Northern Sweden	ACPOP	Study-wide	600	C=0.550	A=0.450
SGDP_PRJ	Global	Study-wide	376	C=0.295	A=0.705
Qatari	Global	Study-wide	216	C=0.667	A=0.333
A Vietnamese Genetic Variation Database	Global	Study-wide	210	C=0.267	A=0.733
The Danish reference pan genome	Danish	Study-wide	40	C=0.57	A=0.42
Siberian	Global	Study-wide	40	C=0.25	A=0.75
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	4	C=0.5	A=0.5

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 9	NC_000009.12:g.5719116C>A
GRCh38.p14 chr 9	NC_000009.12:g.5719116C>G
GRCh38.p14 chr 9	NC_000009.12:g.5719116C>T
GRCh37.p13 chr 9	NC_000009.11:g.5719116C>A
GRCh37.p13 chr 9	NC_000009.11:g.5719116C>G
GRCh37.p13 chr 9	NC_000009.11:g.5719116C>T

Gene: RIC1, RIC1 homolog, RAB6A GEF complex partner 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RIC1 transcript variant 2	NM_001135920.4:c.441-1066… NM_001135920.4:c.441-1066C>A	N/A	Intron Variant
RIC1 transcript variant 3	NM_001206557.2:c.441-1066… NM_001206557.2:c.441-1066C>A	N/A	Intron Variant
RIC1 transcript variant 1	NM_020829.4:c.441-1066C>A	N/A	Intron Variant
RIC1 transcript variant X2	XM_005251523.4:c.441-1066… XM_005251523.4:c.441-1066C>A	N/A	Intron Variant
RIC1 transcript variant X8	XM_017014934.2:c.96-1066C… XM_017014934.2:c.96-1066C>A	N/A	Intron Variant
RIC1 transcript variant X7	XM_017014935.2:c.96-1066C… XM_017014935.2:c.96-1066C>A	N/A	Intron Variant
RIC1 transcript variant X9	XM_017014936.2:c.96-1066C… XM_017014936.2:c.96-1066C>A	N/A	Intron Variant
RIC1 transcript variant X5	XM_047423609.1:c.441-1066… XM_047423609.1:c.441-1066C>A	N/A	Intron Variant
RIC1 transcript variant X10	XM_047423610.1:c.96-1066C… XM_047423610.1:c.96-1066C>A	N/A	Intron Variant
RIC1 transcript variant X11	XM_011517967.3:c.	N/A	Genic Upstream Transcript Variant
RIC1 transcript variant X13	XM_011517968.3:c.	N/A	Genic Upstream Transcript Variant
RIC1 transcript variant X12	XM_047423611.1:c.	N/A	Genic Upstream Transcript Variant
RIC1 transcript variant X3	XR_007061330.1:n.	N/A	Intron Variant
RIC1 transcript variant X4	XR_007061331.1:n.	N/A	Intron Variant
RIC1 transcript variant X6	XR_007061332.1:n.	N/A	Intron Variant
RIC1 transcript variant X1	XR_428426.4:n.	N/A	Intron Variant

Gene: LOC124902115, uncharacterized LOC124902115 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC124902115 transcript	XR_007061409.1:n.695G>T	N/A	Non Coding Transcript Variant
LOC124902115 transcript	XR_007061409.1:n.695G>C	N/A	Non Coding Transcript Variant
LOC124902115 transcript	XR_007061409.1:n.695G>A	N/A	Non Coding 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=	A	G	T
GRCh38.p14 chr 9	NC_000009.12:g.5719116=	NC_000009.12:g.5719116C>A	NC_000009.12:g.5719116C>G	NC_000009.12:g.5719116C>T
GRCh37.p13 chr 9	NC_000009.11:g.5719116=	NC_000009.11:g.5719116C>A	NC_000009.11:g.5719116C>G	NC_000009.11:g.5719116C>T
LOC124902115 transcript	XR_007061409.1:n.695=	XR_007061409.1:n.695G>T	XR_007061409.1:n.695G>C	XR_007061409.1:n.695G>A
RIC1 transcript variant 2	NM_001135920.2:c.441-1066=	NM_001135920.2:c.441-1066C>A	NM_001135920.2:c.441-1066C>G	NM_001135920.2:c.441-1066C>T
RIC1 transcript variant 2	NM_001135920.4:c.441-1066=	NM_001135920.4:c.441-1066C>A	NM_001135920.4:c.441-1066C>G	NM_001135920.4:c.441-1066C>T
RIC1 transcript variant 3	NM_001206557.1:c.441-1066=	NM_001206557.1:c.441-1066C>A	NM_001206557.1:c.441-1066C>G	NM_001206557.1:c.441-1066C>T
RIC1 transcript variant 3	NM_001206557.2:c.441-1066=	NM_001206557.2:c.441-1066C>A	NM_001206557.2:c.441-1066C>G	NM_001206557.2:c.441-1066C>T
RIC1 transcript variant 1	NM_020829.3:c.441-1066=	NM_020829.3:c.441-1066C>A	NM_020829.3:c.441-1066C>G	NM_020829.3:c.441-1066C>T
RIC1 transcript variant 1	NM_020829.4:c.441-1066=	NM_020829.4:c.441-1066C>A	NM_020829.4:c.441-1066C>G	NM_020829.4:c.441-1066C>T
KIAA1432 transcript variant X1	XM_005251523.1:c.441-1066=	XM_005251523.1:c.441-1066C>A	XM_005251523.1:c.441-1066C>G	XM_005251523.1:c.441-1066C>T
RIC1 transcript variant X2	XM_005251523.4:c.441-1066=	XM_005251523.4:c.441-1066C>A	XM_005251523.4:c.441-1066C>G	XM_005251523.4:c.441-1066C>T
KIAA1432 transcript variant X2	XM_005251524.1:c.96-1066=	XM_005251524.1:c.96-1066C>A	XM_005251524.1:c.96-1066C>G	XM_005251524.1:c.96-1066C>T
RIC1 transcript variant X8	XM_017014934.2:c.96-1066=	XM_017014934.2:c.96-1066C>A	XM_017014934.2:c.96-1066C>G	XM_017014934.2:c.96-1066C>T
RIC1 transcript variant X7	XM_017014935.2:c.96-1066=	XM_017014935.2:c.96-1066C>A	XM_017014935.2:c.96-1066C>G	XM_017014935.2:c.96-1066C>T
RIC1 transcript variant X9	XM_017014936.2:c.96-1066=	XM_017014936.2:c.96-1066C>A	XM_017014936.2:c.96-1066C>G	XM_017014936.2:c.96-1066C>T
RIC1 transcript variant X5	XM_047423609.1:c.441-1066=	XM_047423609.1:c.441-1066C>A	XM_047423609.1:c.441-1066C>G	XM_047423609.1:c.441-1066C>T
RIC1 transcript variant X10	XM_047423610.1:c.96-1066=	XM_047423610.1:c.96-1066C>A	XM_047423610.1:c.96-1066C>G	XM_047423610.1:c.96-1066C>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#.

111 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss15988205	Feb 27, 2004 (120)
2	SC_SNP	ss19030775	Feb 27, 2004 (120)
3	PERLEGEN	ss24421784	Sep 20, 2004 (123)
4	ILLUMINA	ss66913671	Nov 30, 2006 (127)
5	ILLUMINA	ss67049052	Nov 30, 2006 (127)
6	ILLUMINA	ss68096302	Dec 12, 2006 (127)
7	PERLEGEN	ss69280270	May 17, 2007 (127)
8	ILLUMINA	ss70511337	May 25, 2008 (130)
9	ILLUMINA	ss71038776	May 17, 2007 (127)
10	ILLUMINA	ss74925213	Dec 07, 2007 (129)
11	HGSV	ss77545366	Dec 07, 2007 (129)
12	KRIBB_YJKIM	ss85044047	Dec 15, 2007 (130)
13	1000GENOMES	ss108548891	Jan 23, 2009 (130)
14	ILLUMINA	ss152894090	Dec 01, 2009 (131)
15	GMI	ss157121415	Dec 01, 2009 (131)
16	ILLUMINA	ss159156666	Dec 01, 2009 (131)
17	ILLUMINA	ss159944785	Dec 01, 2009 (131)
18	ILLUMINA	ss170889414	Jul 04, 2010 (132)
19	BUSHMAN	ss200030964	Jul 04, 2010 (132)
20	1000GENOMES	ss210701004	Jul 14, 2010 (132)
21	1000GENOMES	ss224094495	Jul 14, 2010 (132)
22	1000GENOMES	ss234705700	Jul 15, 2010 (132)
23	1000GENOMES	ss241503680	Jul 15, 2010 (132)
24	GMI	ss280084015	May 04, 2012 (137)
25	PJP	ss294318588	May 09, 2011 (134)
26	ILLUMINA	ss479423064	May 04, 2012 (137)
27	ILLUMINA	ss479426597	May 04, 2012 (137)
28	ILLUMINA	ss479845106	Sep 08, 2015 (146)
29	ILLUMINA	ss484511419	May 04, 2012 (137)
30	ILLUMINA	ss536660052	Sep 08, 2015 (146)
31	ILLUMINA	ss779028293	Sep 08, 2015 (146)
32	ILLUMINA	ss782702288	Sep 08, 2015 (146)
33	ILLUMINA	ss783670303	Sep 08, 2015 (146)
34	ILLUMINA	ss831953467	Sep 08, 2015 (146)
35	ILLUMINA	ss832669271	Jul 13, 2019 (153)
36	ILLUMINA	ss834490973	Sep 08, 2015 (146)
37	EVA-GONL	ss986258225	Aug 21, 2014 (142)
38	JMKIDD_LAB	ss1076069912	Aug 21, 2014 (142)
39	1000GENOMES	ss1332696666	Aug 21, 2014 (142)
40	HAMMER_LAB	ss1397545720	Sep 08, 2015 (146)
41	DDI	ss1431734189	Apr 01, 2015 (144)
42	EVA_GENOME_DK	ss1582965283	Apr 01, 2015 (144)
43	EVA_DECODE	ss1595883133	Apr 01, 2015 (144)
44	EVA_UK10K_ALSPAC	ss1622146162	Apr 01, 2015 (144)
45	EVA_UK10K_TWINSUK	ss1665140195	Apr 01, 2015 (144)
46	EVA_SVP	ss1713086818	Apr 01, 2015 (144)
47	ILLUMINA	ss1752779390	Sep 08, 2015 (146)
48	WEILL_CORNELL_DGM	ss1929537709	Feb 12, 2016 (147)
49	GENOMED	ss1971142305	Jul 19, 2016 (147)
50	JJLAB	ss2025476100	Sep 14, 2016 (149)
51	ILLUMINA	ss2095218610	Dec 20, 2016 (150)
52	USC_VALOUEV	ss2153706028	Dec 20, 2016 (150)
53	HUMAN_LONGEVITY	ss2308976644	Dec 20, 2016 (150)
54	SYSTEMSBIOZJU	ss2627214183	Nov 08, 2017 (151)
55	ILLUMINA	ss2634830567	Nov 08, 2017 (151)
56	GRF	ss2709502520	Nov 08, 2017 (151)
57	GNOMAD	ss2874858906	Nov 08, 2017 (151)
58	SWEGEN	ss3004306415	Nov 08, 2017 (151)
59	BIOINF_KMB_FNS_UNIBA	ss3026526336	Nov 08, 2017 (151)
60	CSHL	ss3348499399	Nov 08, 2017 (151)
61	ILLUMINA	ss3630202747	Oct 12, 2018 (152)
62	ILLUMINA	ss3632724924	Oct 12, 2018 (152)
63	ILLUMINA	ss3633523233	Oct 12, 2018 (152)
64	ILLUMINA	ss3634251076	Oct 12, 2018 (152)
65	ILLUMINA	ss3635200617	Oct 12, 2018 (152)
66	ILLUMINA	ss3635929329	Oct 12, 2018 (152)
67	ILLUMINA	ss3636943840	Oct 12, 2018 (152)
68	ILLUMINA	ss3637682603	Oct 12, 2018 (152)
69	ILLUMINA	ss3638797661	Oct 12, 2018 (152)
70	ILLUMINA	ss3639402543	Oct 12, 2018 (152)
71	ILLUMINA	ss3639993570	Oct 12, 2018 (152)
72	ILLUMINA	ss3640907908	Oct 12, 2018 (152)
73	ILLUMINA	ss3641238416	Oct 12, 2018 (152)
74	ILLUMINA	ss3641536257	Oct 12, 2018 (152)
75	ILLUMINA	ss3643725780	Oct 12, 2018 (152)
76	ILLUMINA	ss3644036668	Oct 12, 2018 (152)
77	ILLUMINA	ss3653453903	Oct 12, 2018 (152)
78	EGCUT_WGS	ss3672038344	Jul 13, 2019 (153)
79	EVA_DECODE	ss3723380565	Jul 13, 2019 (153)
80	ACPOP	ss3736265987	Jul 13, 2019 (153)
81	ILLUMINA	ss3745500548	Jul 13, 2019 (153)
82	EVA	ss3768852395	Jul 13, 2019 (153)
83	ILLUMINA	ss3772992665	Jul 13, 2019 (153)
84	PACBIO	ss3786333491	Jul 13, 2019 (153)
85	PACBIO	ss3791560995	Jul 13, 2019 (153)
86	PACBIO	ss3796442617	Jul 13, 2019 (153)
87	KHV_HUMAN_GENOMES	ss3812012519	Jul 13, 2019 (153)
88	EVA	ss3831511364	Apr 26, 2020 (154)
89	EVA	ss3839268477	Apr 26, 2020 (154)
90	EVA	ss3844730310	Apr 26, 2020 (154)
91	HGDP	ss3847937773	Apr 26, 2020 (154)
92	SGDP_PRJ	ss3871417850	Apr 26, 2020 (154)
93	KRGDB	ss3919049761	Apr 26, 2020 (154)
94	KOGIC	ss3965212062	Apr 26, 2020 (154)
95	EVA	ss3985402708	Apr 26, 2021 (155)
96	EVA	ss4017424118	Apr 26, 2021 (155)
97	TOPMED	ss4810765518	Apr 26, 2021 (155)
98	TOMMO_GENOMICS	ss5191860177	Apr 26, 2021 (155)
99	1000G_HIGH_COVERAGE	ss5279622491	Oct 16, 2022 (156)
100	GENOGRAPHIC	ss5314531745	Oct 16, 2022 (156)
101	EVA	ss5315380157	Oct 16, 2022 (156)
102	HUGCELL_USP	ss5475923916	Oct 16, 2022 (156)
103	1000G_HIGH_COVERAGE	ss5571291340	Oct 16, 2022 (156)
104	SANFORD_IMAGENETICS	ss5646805549	Oct 16, 2022 (156)
105	TOMMO_GENOMICS	ss5734847538	Oct 16, 2022 (156)
106	EVA	ss5799775376	Oct 16, 2022 (156)
107	YY_MCH	ss5810300429	Oct 16, 2022 (156)
108	EVA	ss5828782637	Oct 16, 2022 (156)
109	EVA	ss5856649401	Oct 16, 2022 (156)
110	EVA	ss5915324573	Oct 16, 2022 (156)
111	EVA	ss5976072019	Oct 16, 2022 (156)
112	1000Genomes	NC_000009.11 - 5719116	Oct 12, 2018 (152)
113	1000Genomes_30x	NC_000009.12 - 5719116	Oct 16, 2022 (156)
114	The Avon Longitudinal Study of Parents and Children	NC_000009.11 - 5719116	Oct 12, 2018 (152)
115	Genome-wide autozygosity in Daghestan	NC_000009.10 - 5709116	Apr 26, 2020 (154)
116	Genetic variation in the Estonian population	NC_000009.11 - 5719116	Oct 12, 2018 (152)
117	Genographic Project	NC_000009.12 - 5719116	Oct 16, 2022 (156)
118	The Danish reference pan genome	NC_000009.11 - 5719116	Apr 26, 2020 (154)
119	gnomAD - Genomes	NC_000009.12 - 5719116	Apr 26, 2021 (155)
120	Genome of the Netherlands Release 5	NC_000009.11 - 5719116	Apr 26, 2020 (154)
121	HGDP-CEPH-db Supplement 1	NC_000009.10 - 5709116	Apr 26, 2020 (154)
122	HapMap	NC_000009.12 - 5719116	Apr 26, 2020 (154)
123	KOREAN population from KRGDB	NC_000009.11 - 5719116	Apr 26, 2020 (154)
124	Korean Genome Project	NC_000009.12 - 5719116	Apr 26, 2020 (154)
125	Northern Sweden	NC_000009.11 - 5719116	Jul 13, 2019 (153)
126	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000009.11 - 5719116	Apr 26, 2021 (155)
127	Qatari	NC_000009.11 - 5719116	Apr 26, 2020 (154)
128	SGDP_PRJ	NC_000009.11 - 5719116	Apr 26, 2020 (154)
129	Siberian	NC_000009.11 - 5719116	Apr 26, 2020 (154)
130	8.3KJPN	NC_000009.11 - 5719116	Apr 26, 2021 (155)
131	14KJPN	NC_000009.12 - 5719116	Oct 16, 2022 (156)
132	TopMed	NC_000009.12 - 5719116	Apr 26, 2021 (155)
133	UK 10K study - Twins	NC_000009.11 - 5719116	Oct 12, 2018 (152)
134	A Vietnamese Genetic Variation Database	NC_000009.11 - 5719116	Jul 13, 2019 (153)
135	ALFA	NC_000009.12 - 5719116	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)
rs17292257	Oct 08, 2004 (123)
rs59732584	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss77545366, ss3639402543, ss3639993570, ss3644036668	NC_000009.9:5709115:C:A	NC_000009.12:5719115:C:A	(self)
519304, 615665, ss108548891, ss200030964, ss210701004, ss280084015, ss294318588, ss479423064, ss1397545720, ss1595883133, ss1713086818, ss3643725780, ss3847937773	NC_000009.10:5709115:C:A	NC_000009.12:5719115:C:A	(self)
44919147, 24995446, 17776592, 9130220, 11147169, 26227155, 9550852, 628635, 11579639, 23434830, 6222382, 49829484, 24995446, 5549273, ss224094495, ss234705700, ss241503680, ss479426597, ss479845106, ss484511419, ss536660052, ss779028293, ss782702288, ss783670303, ss831953467, ss832669271, ss834490973, ss986258225, ss1076069912, ss1332696666, ss1431734189, ss1582965283, ss1622146162, ss1665140195, ss1752779390, ss1929537709, ss1971142305, ss2025476100, ss2095218610, ss2153706028, ss2627214183, ss2634830567, ss2709502520, ss2874858906, ss3004306415, ss3348499399, ss3630202747, ss3632724924, ss3633523233, ss3634251076, ss3635200617, ss3635929329, ss3636943840, ss3637682603, ss3638797661, ss3640907908, ss3641238416, ss3641536257, ss3653453903, ss3672038344, ss3736265987, ss3745500548, ss3768852395, ss3772992665, ss3786333491, ss3791560995, ss3796442617, ss3831511364, ss3839268477, ss3871417850, ss3919049761, ss3985402708, ss4017424118, ss5191860177, ss5315380157, ss5646805549, ss5799775376, ss5828782637, ss5976072019	NC_000009.11:5719115:C:A	NC_000009.12:5719115:C:A	(self)
58817275, 68553, 316639945, 3765876, 21590063, 68684642, 648143079, 1546442133, ss2308976644, ss3026526336, ss3723380565, ss3812012519, ss3844730310, ss3965212062, ss4810765518, ss5279622491, ss5314531745, ss5475923916, ss5571291340, ss5734847538, ss5810300429, ss5856649401, ss5915324573	NC_000009.12:5719115:C:A	NC_000009.12:5719115:C:A	(self)
ss15988205, ss19030775	NT_008413.16:5709115:C:A	NC_000009.12:5719115:C:A	(self)
ss24421784, ss66913671, ss67049052, ss68096302, ss69280270, ss70511337, ss71038776, ss74925213, ss85044047, ss152894090, ss157121415, ss159156666, ss159944785, ss170889414	NT_008413.18:5709115:C:A	NC_000009.12:5719115:C:A	(self)
26227155, ss3919049761	NC_000009.11:5719115:C:G	NC_000009.12:5719115:C:G	(self)
1546442133	NC_000009.12:5719115:C:T	NC_000009.12:5719115: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 rs10975258

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

rs10975258