Name: rs10908530
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.

rs10908530

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:157106923 (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>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.222751 (58960/264690, TOPMED)
T=0.215728 (30230/140130, GnomAD)
T=0.24164 (7339/30372, ALFA) (+ 16 more)
T=0.49122 (13880/28256, 14KJPN)
T=0.48998 (8212/16760, 8.3KJPN)
T=0.2873 (1840/6404, 1000G_30x)
T=0.2991 (1498/5008, 1000G)
T=0.2478 (1110/4480, Estonian)
T=0.2641 (1018/3854, ALSPAC)
T=0.2713 (1006/3708, TWINSUK)
C=0.4440 (1301/2930, KOREAN)
C=0.4574 (838/1832, Korea1K)
T=0.274 (273/998, GoNL)
T=0.327 (196/600, NorthernSweden)
C=0.352 (93/264, SGDP_PRJ)
T=0.134 (29/216, Qatari)
C=0.384 (83/216, Vietnamese)
T=0.28 (11/40, GENOME_DK)
C=0.35 (12/34, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
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	30372	C=0.75836	T=0.24164
European	Sub	24554	C=0.73951	T=0.26049
African	Sub	3142	C=0.9453	T=0.0547
African Others	Sub	124	C=1.000	T=0.000
African American	Sub	3018	C=0.9430	T=0.0570
Asian	Sub	124	C=0.427	T=0.573
East Asian	Sub	98	C=0.43	T=0.57
Other Asian	Sub	26	C=0.42	T=0.58
Latin American 1	Sub	160	C=0.806	T=0.194
Latin American 2	Sub	692	C=0.637	T=0.363
South Asian	Sub	114	C=0.623	T=0.377
Other	Sub	1586	C=0.7636	T=0.2364

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=0.777249	T=0.222751
gnomAD - Genomes	Global	Study-wide	140130	C=0.784272	T=0.215728
gnomAD - Genomes	European	Sub	75842	C=0.73458	T=0.26542
gnomAD - Genomes	African	Sub	42034	C=0.94654	T=0.05346
gnomAD - Genomes	American	Sub	13654	C=0.68024	T=0.31976
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.6842	T=0.3158
gnomAD - Genomes	East Asian	Sub	3126	C=0.3916	T=0.6084
gnomAD - Genomes	Other	Sub	2152	C=0.7509	T=0.2491
Allele Frequency Aggregator	Total	Global	30372	C=0.75836	T=0.24164
Allele Frequency Aggregator	European	Sub	24554	C=0.73951	T=0.26049
Allele Frequency Aggregator	African	Sub	3142	C=0.9453	T=0.0547
Allele Frequency Aggregator	Other	Sub	1586	C=0.7636	T=0.2364
Allele Frequency Aggregator	Latin American 2	Sub	692	C=0.637	T=0.363
Allele Frequency Aggregator	Latin American 1	Sub	160	C=0.806	T=0.194
Allele Frequency Aggregator	Asian	Sub	124	C=0.427	T=0.573
Allele Frequency Aggregator	South Asian	Sub	114	C=0.623	T=0.377
14KJPN	JAPANESE	Study-wide	28256	C=0.50878	T=0.49122
8.3KJPN	JAPANESE	Study-wide	16760	C=0.51002	T=0.48998
1000Genomes_30x	Global	Study-wide	6404	C=0.7127	T=0.2873
1000Genomes_30x	African	Sub	1786	C=0.9922	T=0.0078
1000Genomes_30x	Europe	Sub	1266	C=0.7330	T=0.2670
1000Genomes_30x	South Asian	Sub	1202	C=0.6448	T=0.3552
1000Genomes_30x	East Asian	Sub	1170	C=0.4017	T=0.5983
1000Genomes_30x	American	Sub	980	C=0.632	T=0.368
1000Genomes	Global	Study-wide	5008	C=0.7009	T=0.2991
1000Genomes	African	Sub	1322	C=0.9909	T=0.0091
1000Genomes	East Asian	Sub	1008	C=0.4048	T=0.5952
1000Genomes	Europe	Sub	1006	C=0.7346	T=0.2654
1000Genomes	South Asian	Sub	978	C=0.634	T=0.366
1000Genomes	American	Sub	694	C=0.624	T=0.376
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.7522	T=0.2478
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.7359	T=0.2641
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.7287	T=0.2713
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.4440	G=0.0000, T=0.5560
Korean Genome Project	KOREAN	Study-wide	1832	C=0.4574	T=0.5426
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.726	T=0.274
Northern Sweden	ACPOP	Study-wide	600	C=0.673	T=0.327
SGDP_PRJ	Global	Study-wide	264	C=0.352	T=0.648
Qatari	Global	Study-wide	216	C=0.866	T=0.134
A Vietnamese Genetic Variation Database	Global	Study-wide	216	C=0.384	T=0.616
The Danish reference pan genome	Danish	Study-wide	40	C=0.72	T=0.28
Siberian	Global	Study-wide	34	C=0.35	T=0.65

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.157106923C>G
GRCh38.p14 chr 1	NC_000001.11:g.157106923C>T
GRCh37.p13 chr 1	NC_000001.10:g.157076715C>G
GRCh37.p13 chr 1	NC_000001.10:g.157076715C>T

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=	G	T
GRCh38.p14 chr 1	NC_000001.11:g.157106923=	NC_000001.11:g.157106923C>G	NC_000001.11:g.157106923C>T
GRCh37.p13 chr 1	NC_000001.10:g.157076715=	NC_000001.10:g.157076715C>G	NC_000001.10:g.157076715C>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	SC_SNP	ss18069712	Feb 27, 2004 (120)
2	SC_SNP	ss18243015	Feb 27, 2004 (120)
3	CSHL-HAPMAP	ss19095312	Feb 27, 2004 (120)
4	HUMANGENOME_JCVI	ss99252130	Feb 06, 2009 (130)
5	ENSEMBL	ss139206434	Dec 01, 2009 (131)
6	GMI	ss155769679	Dec 01, 2009 (131)
7	1000GENOMES	ss230736761	Jul 14, 2010 (132)
8	1000GENOMES	ss238383400	Jul 15, 2010 (132)
9	BL	ss253520365	May 09, 2011 (134)
10	GMI	ss276055991	May 04, 2012 (137)
11	PJP	ss290639660	May 09, 2011 (134)
12	ILLUMINA	ss482111368	May 04, 2012 (137)
13	ILLUMINA	ss483205501	May 04, 2012 (137)
14	ILLUMINA	ss535425338	Sep 08, 2015 (146)
15	SSMP	ss648423329	Apr 25, 2013 (138)
16	ILLUMINA	ss780190379	Sep 08, 2015 (146)
17	ILLUMINA	ss782046064	Sep 08, 2015 (146)
18	ILLUMINA	ss835674747	Sep 08, 2015 (146)
19	EVA-GONL	ss975698149	Aug 21, 2014 (142)
20	JMKIDD_LAB	ss1068279369	Aug 21, 2014 (142)
21	1000GENOMES	ss1292990552	Aug 21, 2014 (142)
22	DDI	ss1425982577	Apr 01, 2015 (144)
23	EVA_GENOME_DK	ss1574400279	Apr 01, 2015 (144)
24	EVA_DECODE	ss1585080423	Apr 01, 2015 (144)
25	EVA_UK10K_ALSPAC	ss1601247039	Apr 01, 2015 (144)
26	EVA_UK10K_TWINSUK	ss1644241072	Apr 01, 2015 (144)
27	WEILL_CORNELL_DGM	ss1918931847	Feb 12, 2016 (147)
28	GENOMED	ss1966870156	Jul 19, 2016 (147)
29	JJLAB	ss2019980892	Sep 14, 2016 (149)
30	USC_VALOUEV	ss2148007008	Dec 20, 2016 (150)
31	HUMAN_LONGEVITY	ss2166677735	Dec 20, 2016 (150)
32	SYSTEMSBIOZJU	ss2624498261	Nov 08, 2017 (151)
33	ILLUMINA	ss2632578144	Nov 08, 2017 (151)
34	GRF	ss2697979757	Nov 08, 2017 (151)
35	GNOMAD	ss2761514022	Nov 08, 2017 (151)
36	SWEGEN	ss2987779184	Nov 08, 2017 (151)
37	ILLUMINA	ss3021139240	Nov 08, 2017 (151)
38	BIOINF_KMB_FNS_UNIBA	ss3023747266	Nov 08, 2017 (151)
39	CSHL	ss3343716945	Nov 08, 2017 (151)
40	ILLUMINA	ss3626213034	Oct 11, 2018 (152)
41	ILLUMINA	ss3630610898	Oct 11, 2018 (152)
42	ILLUMINA	ss3641617475	Oct 11, 2018 (152)
43	URBANLAB	ss3646794292	Oct 11, 2018 (152)
44	ILLUMINA	ss3651474359	Oct 11, 2018 (152)
45	EGCUT_WGS	ss3655718453	Jul 12, 2019 (153)
46	EVA_DECODE	ss3687815501	Jul 12, 2019 (153)
47	ILLUMINA	ss3725068045	Jul 12, 2019 (153)
48	ACPOP	ss3727498240	Jul 12, 2019 (153)
49	EVA	ss3746827062	Jul 12, 2019 (153)
50	KHV_HUMAN_GENOMES	ss3799826569	Jul 12, 2019 (153)
51	EVA	ss3826431694	Apr 25, 2020 (154)
52	SGDP_PRJ	ss3850038407	Apr 25, 2020 (154)
53	KRGDB	ss3895255941	Apr 25, 2020 (154)
54	KOGIC	ss3945689795	Apr 25, 2020 (154)
55	TOPMED	ss4468908429	Apr 25, 2021 (155)
56	TOMMO_GENOMICS	ss5146566426	Apr 25, 2021 (155)
57	1000G_HIGH_COVERAGE	ss5244350215	Oct 12, 2022 (156)
58	EVA	ss5314652166	Oct 12, 2022 (156)
59	EVA	ss5322156942	Oct 12, 2022 (156)
60	HUGCELL_USP	ss5444936785	Oct 12, 2022 (156)
61	1000G_HIGH_COVERAGE	ss5517706891	Oct 12, 2022 (156)
62	SANFORD_IMAGENETICS	ss5626621651	Oct 12, 2022 (156)
63	TOMMO_GENOMICS	ss5673790795	Oct 12, 2022 (156)
64	YY_MCH	ss5801273095	Oct 12, 2022 (156)
65	EVA	ss5832686772	Oct 12, 2022 (156)
66	EVA	ss5849113994	Oct 12, 2022 (156)
67	EVA	ss5910309945	Oct 12, 2022 (156)
68	EVA	ss5938416465	Oct 12, 2022 (156)
69	1000Genomes	NC_000001.10 - 157076715	Oct 11, 2018 (152)
70	1000Genomes_30x	NC_000001.11 - 157106923	Oct 12, 2022 (156)
71	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 157076715	Oct 11, 2018 (152)
72	Genetic variation in the Estonian population	NC_000001.10 - 157076715	Oct 11, 2018 (152)
73	The Danish reference pan genome	NC_000001.10 - 157076715	Apr 25, 2020 (154)
74	gnomAD - Genomes	NC_000001.11 - 157106923	Apr 25, 2021 (155)
75	Genome of the Netherlands Release 5	NC_000001.10 - 157076715	Apr 25, 2020 (154)
76	KOREAN population from KRGDB	NC_000001.10 - 157076715	Apr 25, 2020 (154)
77	Korean Genome Project	NC_000001.11 - 157106923	Apr 25, 2020 (154)
78	Northern Sweden	NC_000001.10 - 157076715	Jul 12, 2019 (153)
79	Qatari	NC_000001.10 - 157076715	Apr 25, 2020 (154)
80	SGDP_PRJ	NC_000001.10 - 157076715	Apr 25, 2020 (154)
81	Siberian	NC_000001.10 - 157076715	Apr 25, 2020 (154)
82	8.3KJPN	NC_000001.10 - 157076715	Apr 25, 2021 (155)
83	14KJPN	NC_000001.11 - 157106923	Oct 12, 2022 (156)
84	TopMed	NC_000001.11 - 157106923	Apr 25, 2021 (155)
85	UK 10K study - Twins	NC_000001.10 - 157076715	Oct 11, 2018 (152)
86	A Vietnamese Genetic Variation Database	NC_000001.10 - 157076715	Jul 12, 2019 (153)
87	ALFA	NC_000001.11 - 157106923	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
2433335, ss3895255941	NC_000001.10:157076714:C:G	NC_000001.11:157106922:C:G	(self)
ss253520365, ss276055991, ss290639660, ss482111368, ss1585080423	NC_000001.9:155343338:C:T	NC_000001.11:157106922:C:T	(self)
3784852, 2057890, 1456701, 1713565, 892725, 2433335, 783105, 973777, 2055387, 523362, 4535733, 2057890, 440675, ss230736761, ss238383400, ss483205501, ss535425338, ss648423329, ss780190379, ss782046064, ss835674747, ss975698149, ss1068279369, ss1292990552, ss1425982577, ss1574400279, ss1601247039, ss1644241072, ss1918931847, ss1966870156, ss2019980892, ss2148007008, ss2624498261, ss2632578144, ss2697979757, ss2761514022, ss2987779184, ss3021139240, ss3343716945, ss3626213034, ss3630610898, ss3641617475, ss3651474359, ss3655718453, ss3727498240, ss3746827062, ss3826431694, ss3850038407, ss3895255941, ss5146566426, ss5314652166, ss5322156942, ss5626621651, ss5832686772, ss5938416465	NC_000001.10:157076714:C:T	NC_000001.11:157106922:C:T	(self)
5232826, 27561415, 2067796, 7627899, 32514764, 3501113428, ss2166677735, ss3023747266, ss3646794292, ss3687815501, ss3725068045, ss3799826569, ss3945689795, ss4468908429, ss5244350215, ss5444936785, ss5517706891, ss5673790795, ss5801273095, ss5849113994, ss5910309945	NC_000001.11:157106922:C:T	NC_000001.11:157106922:C:T	(self)
ss99252130, ss139206434, ss155769679	NT_004487.19:8565356:C:T	NC_000001.11:157106922:C:T	(self)
ss18069712, ss18243015, ss19095312	NT_079484.1:3526546:C:T	NC_000001.11:157106922: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 rs10908530

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs10908530