Name: rs912519
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.

rs912519

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr13:28623287 (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: C=0.090993 (24085/264690, TOPMED)
C=0.084803 (11880/140090, GnomAD)
C=0.00004 (1/28258, 14KJPN) (+ 15 more)
C=0.04516 (853/18890, ALFA)
C=0.00000 (0/16760, 8.3KJPN)
C=0.0831 (532/6404, 1000G_30x)
C=0.0785 (393/5008, 1000G)
C=0.0005 (2/3854, ALSPAC)
C=0.0003 (1/3708, TWINSUK)
C=0.0003 (1/2930, KOREAN)
C=0.0000 (0/1832, Korea1K)
C=0.000 (0/600, NorthernSweden)
C=0.038 (21/554, SGDP_PRJ)
C=0.037 (8/216, Qatari)
C=0.000 (0/212, Vietnamese)
C=0.160 (33/206, HapMap)
C=0.00 (0/56, Siberian)
C=0.00 (0/40, GENOME_DK)

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	18890	C=0.04516	T=0.95484
European	Sub	14286	C=0.00063	T=0.99937
African	Sub	2946	C=0.2634	T=0.7366
African Others	Sub	114	C=0.263	T=0.737
African American	Sub	2832	C=0.2634	T=0.7366
Asian	Sub	112	C=0.009	T=0.991
East Asian	Sub	86	C=0.00	T=1.00
Other Asian	Sub	26	C=0.04	T=0.96
Latin American 1	Sub	146	C=0.055	T=0.945
Latin American 2	Sub	610	C=0.015	T=0.985
South Asian	Sub	98	C=0.00	T=1.00
Other	Sub	692	C=0.072	T=0.928

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=0.090993	T=0.909007
gnomAD - Genomes	Global	Study-wide	140090	C=0.084803	T=0.915197
gnomAD - Genomes	European	Sub	75960	C=0.00072	T=0.99928
gnomAD - Genomes	African	Sub	41866	C=0.26757	T=0.73243
gnomAD - Genomes	American	Sub	13654	C=0.03515	T=0.96485
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.0000	T=1.0000
gnomAD - Genomes	East Asian	Sub	3132	C=0.0006	T=0.9994
gnomAD - Genomes	Other	Sub	2154	C=0.0655	T=0.9345
14KJPN	JAPANESE	Study-wide	28258	C=0.00004	T=0.99996
Allele Frequency Aggregator	Total	Global	18890	C=0.04516	T=0.95484
Allele Frequency Aggregator	European	Sub	14286	C=0.00063	T=0.99937
Allele Frequency Aggregator	African	Sub	2946	C=0.2634	T=0.7366
Allele Frequency Aggregator	Other	Sub	692	C=0.072	T=0.928
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.015	T=0.985
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.055	T=0.945
Allele Frequency Aggregator	Asian	Sub	112	C=0.009	T=0.991
Allele Frequency Aggregator	South Asian	Sub	98	C=0.00	T=1.00
8.3KJPN	JAPANESE	Study-wide	16760	C=0.00000	T=1.00000
1000Genomes_30x	Global	Study-wide	6404	C=0.0831	T=0.9169
1000Genomes_30x	African	Sub	1786	C=0.2867	T=0.7133
1000Genomes_30x	Europe	Sub	1266	C=0.0008	T=0.9992
1000Genomes_30x	South Asian	Sub	1202	C=0.0008	T=0.9992
1000Genomes_30x	East Asian	Sub	1170	C=0.0000	T=1.0000
1000Genomes_30x	American	Sub	980	C=0.018	T=0.982
1000Genomes	Global	Study-wide	5008	C=0.0785	T=0.9215
1000Genomes	African	Sub	1322	C=0.2859	T=0.7141
1000Genomes	East Asian	Sub	1008	C=0.0000	T=1.0000
1000Genomes	Europe	Sub	1006	C=0.0010	T=0.9990
1000Genomes	South Asian	Sub	978	C=0.001	T=0.999
1000Genomes	American	Sub	694	C=0.019	T=0.981
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.0005	T=0.9995
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.0003	T=0.9997
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.0003	A=0.0000, G=0.0000, T=0.9997
Korean Genome Project	KOREAN	Study-wide	1832	C=0.0000	T=1.0000
Northern Sweden	ACPOP	Study-wide	600	C=0.000	T=1.000
SGDP_PRJ	Global	Study-wide	554	C=0.038	T=0.962
Qatari	Global	Study-wide	216	C=0.037	T=0.963
A Vietnamese Genetic Variation Database	Global	Study-wide	212	C=0.000	T=1.000
HapMap	Global	Study-wide	206	C=0.160	T=0.840
HapMap	African	Sub	120	C=0.275	T=0.725
HapMap	Asian	Sub	86	C=0.00	T=1.00
Siberian	Global	Study-wide	56	C=0.00	T=1.00
The Danish reference pan genome	Danish	Study-wide	40	C=0.00	T=1.00

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 13	NC_000013.11:g.28623287C>A
GRCh38.p14 chr 13	NC_000013.11:g.28623287C>G
GRCh38.p14 chr 13	NC_000013.11:g.28623287C>T
GRCh37.p13 chr 13	NC_000013.10:g.29197424C>A
GRCh37.p13 chr 13	NC_000013.10:g.29197424C>G
GRCh37.p13 chr 13	NC_000013.10:g.29197424C>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=	A	G	T
GRCh38.p14 chr 13	NC_000013.11:g.28623287=	NC_000013.11:g.28623287C>A	NC_000013.11:g.28623287C>G	NC_000013.11:g.28623287C>T
GRCh37.p13 chr 13	NC_000013.10:g.29197424=	NC_000013.10:g.29197424C>A	NC_000013.10:g.29197424C>G	NC_000013.10:g.29197424C>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#.

73 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss1347002	Oct 05, 2000 (86)
2	SC_JCM	ss6027345	Feb 20, 2003 (111)
3	SC_SNP	ss13302758	Dec 05, 2003 (119)
4	SSAHASNP	ss21051490	Apr 05, 2004 (123)
5	HGSV	ss78912968	Dec 07, 2007 (129)
6	BCMHGSC_JDW	ss89558815	Mar 24, 2008 (129)
7	HUMANGENOME_JCVI	ss96954732	Feb 04, 2009 (130)
8	BGI	ss106322389	Feb 04, 2009 (130)
9	1000GENOMES	ss112647350	Jan 25, 2009 (130)
10	1000GENOMES	ss114466985	Jan 25, 2009 (130)
11	ILLUMINA-UK	ss118401650	Feb 14, 2009 (130)
12	ENSEMBL	ss133504392	Dec 01, 2009 (131)
13	ENSEMBL	ss137273997	Dec 01, 2009 (131)
14	GMI	ss154584072	Dec 01, 2009 (131)
15	COMPLETE_GENOMICS	ss167791310	Jul 04, 2010 (132)
16	COMPLETE_GENOMICS	ss169071700	Jul 04, 2010 (132)
17	COMPLETE_GENOMICS	ss170931846	Jul 04, 2010 (132)
18	BCM-HGSC-SUB	ss208486898	Jul 04, 2010 (132)
19	1000GENOMES	ss226099260	Jul 14, 2010 (132)
20	1000GENOMES	ss236190549	Jul 15, 2010 (132)
21	1000GENOMES	ss242698051	Jul 15, 2010 (132)
22	BL	ss254885333	May 09, 2011 (134)
23	GMI	ss281653050	May 04, 2012 (137)
24	GMI	ss286675295	Apr 25, 2013 (138)
25	PJP	ss291564842	May 09, 2011 (134)
26	TISHKOFF	ss563571597	Apr 25, 2013 (138)
27	SSMP	ss659167382	Apr 25, 2013 (138)
28	JMKIDD_LAB	ss1078963705	Aug 21, 2014 (142)
29	1000GENOMES	ss1347619760	Aug 21, 2014 (142)
30	DDI	ss1427140507	Apr 01, 2015 (144)
31	EVA_GENOME_DK	ss1576695032	Apr 01, 2015 (144)
32	EVA_UK10K_ALSPAC	ss1629957225	Apr 01, 2015 (144)
33	EVA_UK10K_TWINSUK	ss1672951258	Apr 01, 2015 (144)
34	HAMMER_LAB	ss1807541774	Sep 08, 2015 (146)
35	WEILL_CORNELL_DGM	ss1933597366	Feb 12, 2016 (147)
36	GENOMED	ss1967743371	Jul 19, 2016 (147)
37	JJLAB	ss2027554344	Sep 14, 2016 (149)
38	USC_VALOUEV	ss2155919086	Dec 20, 2016 (150)
39	HUMAN_LONGEVITY	ss2195102643	Dec 20, 2016 (150)
40	SYSTEMSBIOZJU	ss2628265315	Nov 08, 2017 (151)
41	GRF	ss2700291231	Nov 08, 2017 (151)
42	GNOMAD	ss2917944163	Nov 08, 2017 (151)
43	SWEGEN	ss3010774325	Nov 08, 2017 (151)
44	BIOINF_KMB_FNS_UNIBA	ss3027592716	Nov 08, 2017 (151)
45	CSHL	ss3350381960	Nov 08, 2017 (151)
46	URBANLAB	ss3649996467	Oct 12, 2018 (152)
47	EVA_DECODE	ss3694991551	Jul 13, 2019 (153)
48	ACPOP	ss3739612492	Jul 13, 2019 (153)
49	EVA	ss3751275877	Jul 13, 2019 (153)
50	PACBIO	ss3787414299	Jul 13, 2019 (153)
51	PACBIO	ss3792486973	Jul 13, 2019 (153)
52	PACBIO	ss3797370689	Jul 13, 2019 (153)
53	KHV_HUMAN_GENOMES	ss3816606885	Jul 13, 2019 (153)
54	EVA	ss3833466924	Apr 27, 2020 (154)
55	EVA	ss3840310651	Apr 27, 2020 (154)
56	EVA	ss3845795393	Apr 27, 2020 (154)
57	SGDP_PRJ	ss3879660854	Apr 27, 2020 (154)
58	KRGDB	ss3928482309	Apr 27, 2020 (154)
59	KOGIC	ss3973268351	Apr 27, 2020 (154)
60	TOPMED	ss4940997786	Apr 26, 2021 (155)
61	TOMMO_GENOMICS	ss5209316815	Apr 26, 2021 (155)
62	1000G_HIGH_COVERAGE	ss5293208555	Oct 16, 2022 (156)
63	EVA	ss5409805670	Oct 16, 2022 (156)
64	HUGCELL_USP	ss5487624679	Oct 16, 2022 (156)
65	EVA	ss5510918760	Oct 16, 2022 (156)
66	1000G_HIGH_COVERAGE	ss5591893152	Oct 16, 2022 (156)
67	SANFORD_IMAGENETICS	ss5654466571	Oct 16, 2022 (156)
68	TOMMO_GENOMICS	ss5760998424	Oct 16, 2022 (156)
69	YY_MCH	ss5813978916	Oct 16, 2022 (156)
70	EVA	ss5839266745	Oct 16, 2022 (156)
71	EVA	ss5850661921	Oct 16, 2022 (156)
72	EVA	ss5924497335	Oct 16, 2022 (156)
73	EVA	ss5945872963	Oct 16, 2022 (156)
74	1000Genomes	NC_000013.10 - 29197424	Oct 12, 2018 (152)
75	1000Genomes_30x	NC_000013.11 - 28623287	Oct 16, 2022 (156)
76	The Avon Longitudinal Study of Parents and Children	NC_000013.10 - 29197424	Oct 12, 2018 (152)
77	The Danish reference pan genome	NC_000013.10 - 29197424	Apr 27, 2020 (154)
78	gnomAD - Genomes	NC_000013.11 - 28623287	Apr 26, 2021 (155)
79	HapMap	NC_000013.11 - 28623287	Apr 27, 2020 (154)
80	KOREAN population from KRGDB	NC_000013.10 - 29197424	Apr 27, 2020 (154)
81	Korean Genome Project	NC_000013.11 - 28623287	Apr 27, 2020 (154)
82	Northern Sweden	NC_000013.10 - 29197424	Jul 13, 2019 (153)
83	Qatari	NC_000013.10 - 29197424	Apr 27, 2020 (154)
84	SGDP_PRJ	NC_000013.10 - 29197424	Apr 27, 2020 (154)
85	Siberian	NC_000013.10 - 29197424	Apr 27, 2020 (154)
86	8.3KJPN	NC_000013.10 - 29197424	Apr 26, 2021 (155)
87	14KJPN	NC_000013.11 - 28623287	Oct 16, 2022 (156)
88	TopMed	NC_000013.11 - 28623287	Apr 26, 2021 (155)
89	UK 10K study - Twins	NC_000013.10 - 29197424	Oct 12, 2018 (152)
90	A Vietnamese Genetic Variation Database	NC_000013.10 - 29197424	Jul 13, 2019 (153)
91	ALFA	NC_000013.11 - 28623287	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)
rs12857660	Sep 24, 2004 (123)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
35659703, ss3928482309	NC_000013.10:29197423:C:A	NC_000013.11:28623286:C:A	(self)
35659703, ss3928482309	NC_000013.10:29197423:C:G	NC_000013.11:28623286:C:G	(self)
ss78912968, ss89558815, ss112647350, ss114466985, ss118401650, ss167791310, ss169071700, ss170931846, ss208486898, ss254885333, ss281653050, ss286675295, ss291564842	NC_000013.9:28095423:C:T	NC_000013.11:28623286:C:T	(self)
60468173, 33584062, 3234460, 35659703, 12897357, 15639296, 31677834, 8435440, 67286122, 33584062, 7449596, ss226099260, ss236190549, ss242698051, ss563571597, ss659167382, ss1078963705, ss1347619760, ss1427140507, ss1576695032, ss1629957225, ss1672951258, ss1807541774, ss1933597366, ss1967743371, ss2027554344, ss2155919086, ss2628265315, ss2700291231, ss2917944163, ss3010774325, ss3350381960, ss3739612492, ss3751275877, ss3787414299, ss3792486973, ss3797370689, ss3833466924, ss3840310651, ss3879660854, ss3928482309, ss5209316815, ss5409805670, ss5510918760, ss5654466571, ss5839266745, ss5945872963	NC_000013.10:29197423:C:T	NC_000013.11:28623286:C:T	(self)
79419087, 426386341, 955161, 29646352, 94835528, 156543444, 9893920922, ss2195102643, ss3027592716, ss3649996467, ss3694991551, ss3816606885, ss3845795393, ss3973268351, ss4940997786, ss5293208555, ss5487624679, ss5591893152, ss5760998424, ss5813978916, ss5850661921, ss5924497335	NC_000013.11:28623286:C:T	NC_000013.11:28623286:C:T	(self)
ss13302758	NT_009799.12:10177423:C:T	NC_000013.11:28623286:C:T	(self)
ss21051490	NT_024524.13:10177423:C:T	NC_000013.11:28623286:C:T	(self)
ss1347002, ss6027345, ss96954732, ss106322389, ss133504392, ss137273997, ss154584072	NT_024524.14:10177423:C:T	NC_000013.11:28623286: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 rs912519

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

rs912519