Name: rs2278313
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.

rs2278313

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:33842409 (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: T>A / T>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.178779 (47321/264690, TOPMED)
C=0.199733 (42617/213370, ALFA)
T=0.45109 (12747/28258, 14KJPN) (+ 18 more)
T=0.44857 (7518/16760, 8.3KJPN)
C=0.2139 (1370/6404, 1000G_30x)
C=0.2244 (1124/5008, 1000G)
C=0.2228 (998/4480, Estonian)
C=0.2161 (833/3854, ALSPAC)
C=0.2004 (743/3708, TWINSUK)
T=0.4966 (1455/2930, KOREAN)
C=0.2721 (567/2084, HGDP_Stanford)
C=0.2220 (420/1892, HapMap)
T=0.4945 (906/1832, Korea1K)
C=0.226 (226/998, GoNL)
C=0.313 (188/600, NorthernSweden)
T=0.361 (104/288, SGDP_PRJ)
C=0.120 (26/216, Qatari)
T=0.458 (98/214, Vietnamese)
C=0.23 (14/62, Ancient Sardinia)
C=0.23 (9/40, GENOME_DK)
T=0.35 (12/34, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RYR3 : 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	213464	T=0.800304	A=0.000000, C=0.199696
European	Sub	190754	T=0.795915	A=0.000000, C=0.204085
African	Sub	6774	T=0.9469	A=0.0000, C=0.0531
African Others	Sub	260	T=0.969	A=0.000, C=0.031
African American	Sub	6514	T=0.9460	A=0.0000, C=0.0540
Asian	Sub	666	T=0.482	A=0.000, C=0.518
East Asian	Sub	536	T=0.479	A=0.000, C=0.521
Other Asian	Sub	130	T=0.492	A=0.000, C=0.508
Latin American 1	Sub	740	T=0.859	A=0.000, C=0.141
Latin American 2	Sub	2560	T=0.7746	A=0.0000, C=0.2254
South Asian	Sub	4996	T=0.8155	A=0.0000, C=0.1845
Other	Sub	6974	T=0.8007	A=0.0000, C=0.1993

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	T=0.821221	C=0.178779
Allele Frequency Aggregator	Total	Global	213370	T=0.800267	A=0.000000, C=0.199733
Allele Frequency Aggregator	European	Sub	190678	T=0.795892	A=0.000000, C=0.204108
Allele Frequency Aggregator	Other	Sub	6956	T=0.8002	A=0.0000, C=0.1998
Allele Frequency Aggregator	African	Sub	6774	T=0.9469	A=0.0000, C=0.0531
Allele Frequency Aggregator	South Asian	Sub	4996	T=0.8155	A=0.0000, C=0.1845
Allele Frequency Aggregator	Latin American 2	Sub	2560	T=0.7746	A=0.0000, C=0.2254
Allele Frequency Aggregator	Latin American 1	Sub	740	T=0.859	A=0.000, C=0.141
Allele Frequency Aggregator	Asian	Sub	666	T=0.482	A=0.000, C=0.518
14KJPN	JAPANESE	Study-wide	28258	T=0.45109	C=0.54891
8.3KJPN	JAPANESE	Study-wide	16760	T=0.44857	C=0.55143
1000Genomes_30x	Global	Study-wide	6404	T=0.7861	C=0.2139
1000Genomes_30x	African	Sub	1786	T=0.9602	C=0.0398
1000Genomes_30x	Europe	Sub	1266	T=0.7891	C=0.2109
1000Genomes_30x	South Asian	Sub	1202	T=0.7945	C=0.2055
1000Genomes_30x	East Asian	Sub	1170	T=0.4855	C=0.5145
1000Genomes_30x	American	Sub	980	T=0.813	C=0.187
1000Genomes	Global	Study-wide	5008	T=0.7756	C=0.2244
1000Genomes	African	Sub	1322	T=0.9569	C=0.0431
1000Genomes	East Asian	Sub	1008	T=0.4821	C=0.5179
1000Genomes	Europe	Sub	1006	T=0.7873	C=0.2127
1000Genomes	South Asian	Sub	978	T=0.792	C=0.208
1000Genomes	American	Sub	694	T=0.816	C=0.184
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.7772	C=0.2228
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.7839	C=0.2161
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.7996	C=0.2004
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.4966	A=0.0000, C=0.5034, G=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	T=0.7279	C=0.2721
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.536	C=0.464
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.807	C=0.193
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.814	C=0.186
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.756	C=0.244
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.979	C=0.021
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.713	C=0.287
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.18	C=0.82
HapMap	Global	Study-wide	1892	T=0.7780	C=0.2220
HapMap	American	Sub	770	T=0.732	C=0.268
HapMap	African	Sub	692	T=0.944	C=0.056
HapMap	Asian	Sub	254	T=0.472	C=0.528
HapMap	Europe	Sub	176	T=0.767	C=0.233
Korean Genome Project	KOREAN	Study-wide	1832	T=0.4945	C=0.5055
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.774	C=0.226
Northern Sweden	ACPOP	Study-wide	600	T=0.687	C=0.313
SGDP_PRJ	Global	Study-wide	288	T=0.361	C=0.639
Qatari	Global	Study-wide	216	T=0.880	C=0.120
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.458	C=0.542
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	62	T=0.77	C=0.23
The Danish reference pan genome	Danish	Study-wide	40	T=0.78	C=0.23
Siberian	Global	Study-wide	34	T=0.35	C=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 15	NC_000015.10:g.33842409T>A
GRCh38.p14 chr 15	NC_000015.10:g.33842409T>C
GRCh38.p14 chr 15	NC_000015.10:g.33842409T>G
GRCh37.p13 chr 15	NC_000015.9:g.34134610T>A
GRCh37.p13 chr 15	NC_000015.9:g.34134610T>C
GRCh37.p13 chr 15	NC_000015.9:g.34134610T>G
RYR3 RefSeqGene	NG_047076.1:g.536627T>A
RYR3 RefSeqGene	NG_047076.1:g.536627T>C
RYR3 RefSeqGene	NG_047076.1:g.536627T>G

Gene: RYR3, ryanodine receptor 3 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RYR3 transcript variant 1	NM_001036.6:c.13209+374T>A	N/A	Intron Variant
RYR3 transcript variant 2	NM_001243996.4:c.13194+37… NM_001243996.4:c.13194+374T>A	N/A	Intron Variant
RYR3 transcript variant X8	XM_011521880.3:c.13176+37… XM_011521880.3:c.13176+374T>A	N/A	Intron Variant
RYR3 transcript variant X1	XM_017022468.2:c.13197+37… XM_017022468.2:c.13197+374T>A	N/A	Intron Variant
RYR3 transcript variant X2	XM_017022469.2:c.13194+37… XM_017022469.2:c.13194+374T>A	N/A	Intron Variant
RYR3 transcript variant X3	XM_017022470.3:c.13194+37… XM_017022470.3:c.13194+374T>A	N/A	Intron Variant
RYR3 transcript variant X4	XM_017022471.2:c.13194+37… XM_017022471.2:c.13194+374T>A	N/A	Intron Variant
RYR3 transcript variant X5	XM_017022472.2:c.13191+37… XM_017022472.2:c.13191+374T>A	N/A	Intron Variant
RYR3 transcript variant X7	XM_017022473.2:c.13179+37… XM_017022473.2:c.13179+374T>A	N/A	Intron Variant
RYR3 transcript variant X9	XM_017022474.2:c.13176+37… XM_017022474.2:c.13176+374T>A	N/A	Intron Variant
RYR3 transcript variant X11	XM_017022475.2:c.13197+37… XM_017022475.2:c.13197+374T>A	N/A	Intron Variant
RYR3 transcript variant X13	XM_017022476.2:c.13089+37… XM_017022476.2:c.13089+374T>A	N/A	Intron Variant
RYR3 transcript variant X6	XM_024450015.2:c.13191+37… XM_024450015.2:c.13191+374T>A	N/A	Intron Variant
RYR3 transcript variant X18	XM_024450016.2:c.13188+37… XM_024450016.2:c.13188+374T>A	N/A	Intron Variant
RYR3 transcript variant X10	XM_047432931.1:c.13197+37… XM_047432931.1:c.13197+374T>A	N/A	Intron Variant
RYR3 transcript variant X12	XM_047432932.1:c.13179+37… XM_047432932.1:c.13179+374T>A	N/A	Intron Variant
RYR3 transcript variant X14	XM_047432933.1:c.13197+37… XM_047432933.1:c.13197+374T>A	N/A	Intron Variant
RYR3 transcript variant X15	XM_017022477.2:c.	N/A	Genic Downstream Transcript Variant
RYR3 transcript variant X16	XR_001751370.2:n.	N/A	Genic Downstream Transcript Variant
RYR3 transcript variant X17	XR_001751371.3:n.	N/A	Genic Downstream 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	T=	A	C	G
GRCh38.p14 chr 15	NC_000015.10:g.33842409=	NC_000015.10:g.33842409T>A	NC_000015.10:g.33842409T>C	NC_000015.10:g.33842409T>G
GRCh37.p13 chr 15	NC_000015.9:g.34134610=	NC_000015.9:g.34134610T>A	NC_000015.9:g.34134610T>C	NC_000015.9:g.34134610T>G
RYR3 RefSeqGene	NG_047076.1:g.536627=	NG_047076.1:g.536627T>A	NG_047076.1:g.536627T>C	NG_047076.1:g.536627T>G
RYR3 transcript variant 1	NM_001036.3:c.13209+374=	NM_001036.3:c.13209+374T>A	NM_001036.3:c.13209+374T>C	NM_001036.3:c.13209+374T>G
RYR3 transcript variant 1	NM_001036.6:c.13209+374=	NM_001036.6:c.13209+374T>A	NM_001036.6:c.13209+374T>C	NM_001036.6:c.13209+374T>G
RYR3 transcript variant 2	NM_001243996.1:c.13194+374=	NM_001243996.1:c.13194+374T>A	NM_001243996.1:c.13194+374T>C	NM_001243996.1:c.13194+374T>G
RYR3 transcript variant 2	NM_001243996.4:c.13194+374=	NM_001243996.4:c.13194+374T>A	NM_001243996.4:c.13194+374T>C	NM_001243996.4:c.13194+374T>G
RYR3 transcript variant X1	XM_005254587.1:c.13209+374=	XM_005254587.1:c.13209+374T>A	XM_005254587.1:c.13209+374T>C	XM_005254587.1:c.13209+374T>G
RYR3 transcript variant X2	XM_005254588.1:c.13194+374=	XM_005254588.1:c.13194+374T>A	XM_005254588.1:c.13194+374T>C	XM_005254588.1:c.13194+374T>G
RYR3 transcript variant X8	XM_011521880.3:c.13176+374=	XM_011521880.3:c.13176+374T>A	XM_011521880.3:c.13176+374T>C	XM_011521880.3:c.13176+374T>G
RYR3 transcript variant X1	XM_017022468.2:c.13197+374=	XM_017022468.2:c.13197+374T>A	XM_017022468.2:c.13197+374T>C	XM_017022468.2:c.13197+374T>G
RYR3 transcript variant X2	XM_017022469.2:c.13194+374=	XM_017022469.2:c.13194+374T>A	XM_017022469.2:c.13194+374T>C	XM_017022469.2:c.13194+374T>G
RYR3 transcript variant X3	XM_017022470.3:c.13194+374=	XM_017022470.3:c.13194+374T>A	XM_017022470.3:c.13194+374T>C	XM_017022470.3:c.13194+374T>G
RYR3 transcript variant X4	XM_017022471.2:c.13194+374=	XM_017022471.2:c.13194+374T>A	XM_017022471.2:c.13194+374T>C	XM_017022471.2:c.13194+374T>G
RYR3 transcript variant X5	XM_017022472.2:c.13191+374=	XM_017022472.2:c.13191+374T>A	XM_017022472.2:c.13191+374T>C	XM_017022472.2:c.13191+374T>G
RYR3 transcript variant X7	XM_017022473.2:c.13179+374=	XM_017022473.2:c.13179+374T>A	XM_017022473.2:c.13179+374T>C	XM_017022473.2:c.13179+374T>G
RYR3 transcript variant X9	XM_017022474.2:c.13176+374=	XM_017022474.2:c.13176+374T>A	XM_017022474.2:c.13176+374T>C	XM_017022474.2:c.13176+374T>G
RYR3 transcript variant X11	XM_017022475.2:c.13197+374=	XM_017022475.2:c.13197+374T>A	XM_017022475.2:c.13197+374T>C	XM_017022475.2:c.13197+374T>G
RYR3 transcript variant X13	XM_017022476.2:c.13089+374=	XM_017022476.2:c.13089+374T>A	XM_017022476.2:c.13089+374T>C	XM_017022476.2:c.13089+374T>G
RYR3 transcript variant X6	XM_024450015.2:c.13191+374=	XM_024450015.2:c.13191+374T>A	XM_024450015.2:c.13191+374T>C	XM_024450015.2:c.13191+374T>G
RYR3 transcript variant X18	XM_024450016.2:c.13188+374=	XM_024450016.2:c.13188+374T>A	XM_024450016.2:c.13188+374T>C	XM_024450016.2:c.13188+374T>G
RYR3 transcript variant X10	XM_047432931.1:c.13197+374=	XM_047432931.1:c.13197+374T>A	XM_047432931.1:c.13197+374T>C	XM_047432931.1:c.13197+374T>G
RYR3 transcript variant X12	XM_047432932.1:c.13179+374=	XM_047432932.1:c.13179+374T>A	XM_047432932.1:c.13179+374T>C	XM_047432932.1:c.13179+374T>G
RYR3 transcript variant X14	XM_047432933.1:c.13197+374=	XM_047432933.1:c.13197+374T>A	XM_047432933.1:c.13197+374T>C	XM_047432933.1:c.13197+374T>G

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#.

115 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss3215473	Sep 28, 2001 (100)
2	CSHL-HAPMAP	ss16690061	Feb 27, 2004 (120)
3	SSAHASNP	ss21279098	Apr 05, 2004 (121)
4	PERLEGEN	ss24138498	Sep 20, 2004 (123)
5	ABI	ss43691046	Mar 14, 2006 (126)
6	ILLUMINA	ss67240952	Dec 01, 2006 (127)
7	ILLUMINA	ss67637640	Dec 01, 2006 (127)
8	ILLUMINA	ss68201124	Dec 12, 2006 (127)
9	PERLEGEN	ss69172713	May 18, 2007 (127)
10	ILLUMINA	ss70719297	May 24, 2008 (130)
11	ILLUMINA	ss71287566	May 18, 2007 (127)
12	ILLUMINA	ss75582431	Dec 07, 2007 (129)
13	HGSV	ss77230975	Dec 07, 2007 (129)
14	KRIBB_YJKIM	ss84017803	Dec 14, 2007 (130)
15	HUMANGENOME_JCVI	ss96802915	Feb 04, 2009 (130)
16	BGI	ss103227747	Dec 01, 2009 (131)
17	1000GENOMES	ss108721922	Jan 23, 2009 (130)
18	ENSEMBL	ss143452980	Dec 01, 2009 (131)
19	ILLUMINA	ss153898047	Dec 01, 2009 (131)
20	GMI	ss156401200	Dec 01, 2009 (131)
21	ILLUMINA	ss159375898	Dec 01, 2009 (131)
22	ILLUMINA	ss160527028	Dec 01, 2009 (131)
23	ILLUMINA	ss173241555	Jul 04, 2010 (132)
24	BCM-HGSC-SUB	ss207271958	Jul 04, 2010 (132)
25	1000GENOMES	ss211591013	Jul 14, 2010 (132)
26	1000GENOMES	ss226830347	Jul 14, 2010 (132)
27	1000GENOMES	ss236734659	Jul 15, 2010 (132)
28	1000GENOMES	ss243129816	Jul 15, 2010 (132)
29	BL	ss254889533	May 09, 2011 (134)
30	GMI	ss282207424	May 04, 2012 (137)
31	PJP	ss291815017	May 09, 2011 (134)
32	ILLUMINA	ss480501745	May 04, 2012 (137)
33	ILLUMINA	ss480516109	May 04, 2012 (137)
34	ILLUMINA	ss481322440	Sep 08, 2015 (146)
35	ILLUMINA	ss485048360	May 04, 2012 (137)
36	ILLUMINA	ss537067797	Sep 08, 2015 (146)
37	SSMP	ss660120829	Apr 25, 2013 (138)
38	ILLUMINA	ss778489362	Aug 21, 2014 (142)
39	ILLUMINA	ss782970397	Aug 21, 2014 (142)
40	ILLUMINA	ss783931978	Aug 21, 2014 (142)
41	ILLUMINA	ss832226718	Apr 01, 2015 (144)
42	ILLUMINA	ss832887705	Aug 21, 2014 (142)
43	ILLUMINA	ss833478535	Aug 21, 2014 (142)
44	ILLUMINA	ss833945345	Aug 21, 2014 (142)
45	EVA-GONL	ss991660411	Aug 21, 2014 (142)
46	JMKIDD_LAB	ss1080028460	Aug 21, 2014 (142)
47	1000GENOMES	ss1352966200	Aug 21, 2014 (142)
48	DDI	ss1427586612	Apr 01, 2015 (144)
49	EVA_GENOME_DK	ss1577545545	Apr 01, 2015 (144)
50	EVA_UK10K_ALSPAC	ss1632736810	Apr 01, 2015 (144)
51	EVA_UK10K_TWINSUK	ss1675730843	Apr 01, 2015 (144)
52	EVA_DECODE	ss1695671325	Apr 01, 2015 (144)
53	EVA_SVP	ss1713480344	Apr 01, 2015 (144)
54	ILLUMINA	ss1752156216	Sep 08, 2015 (146)
55	WEILL_CORNELL_DGM	ss1935064836	Feb 12, 2016 (147)
56	GENOMED	ss1968078562	Jul 19, 2016 (147)
57	JJLAB	ss2028310653	Sep 14, 2016 (149)
58	USC_VALOUEV	ss2156707328	Dec 20, 2016 (150)
59	HUMAN_LONGEVITY	ss2205767608	Dec 20, 2016 (150)
60	SYSTEMSBIOZJU	ss2628648875	Nov 08, 2017 (151)
61	ILLUMINA	ss2633213127	Nov 08, 2017 (151)
62	GRF	ss2701171858	Nov 08, 2017 (151)
63	ILLUMINA	ss2710813170	Nov 08, 2017 (151)
64	GNOMAD	ss2933457327	Nov 08, 2017 (151)
65	AFFY	ss2985036195	Nov 08, 2017 (151)
66	AFFY	ss2985670093	Nov 08, 2017 (151)
67	SWEGEN	ss3013078082	Nov 08, 2017 (151)
68	BIOINF_KMB_FNS_UNIBA	ss3027978731	Nov 08, 2017 (151)
69	CSHL	ss3351060453	Nov 08, 2017 (151)
70	ILLUMINA	ss3627331452	Oct 12, 2018 (152)
71	ILLUMINA	ss3631207167	Oct 12, 2018 (152)
72	ILLUMINA	ss3633092956	Oct 12, 2018 (152)
73	ILLUMINA	ss3633797380	Oct 12, 2018 (152)
74	ILLUMINA	ss3634599740	Oct 12, 2018 (152)
75	ILLUMINA	ss3635486401	Oct 12, 2018 (152)
76	ILLUMINA	ss3636290288	Oct 12, 2018 (152)
77	ILLUMINA	ss3637237646	Oct 12, 2018 (152)
78	ILLUMINA	ss3638077978	Oct 12, 2018 (152)
79	ILLUMINA	ss3639052528	Oct 12, 2018 (152)
80	ILLUMINA	ss3639835601	Oct 12, 2018 (152)
81	ILLUMINA	ss3640307063	Oct 12, 2018 (152)
82	ILLUMINA	ss3643062631	Oct 12, 2018 (152)
83	ILLUMINA	ss3643885810	Oct 12, 2018 (152)
84	URBANLAB	ss3650328004	Oct 12, 2018 (152)
85	ILLUMINA	ss3653808028	Oct 12, 2018 (152)
86	EGCUT_WGS	ss3680225594	Jul 13, 2019 (153)
87	EVA_DECODE	ss3697652274	Jul 13, 2019 (153)
88	ACPOP	ss3740819419	Jul 13, 2019 (153)
89	ILLUMINA	ss3744900289	Jul 13, 2019 (153)
90	EVA	ss3752932838	Jul 13, 2019 (153)
91	ILLUMINA	ss3772398998	Jul 13, 2019 (153)
92	KHV_HUMAN_GENOMES	ss3818250233	Jul 13, 2019 (153)
93	EVA	ss3834173830	Apr 27, 2020 (154)
94	EVA	ss3840685151	Apr 27, 2020 (154)
95	EVA	ss3846173438	Apr 27, 2020 (154)
96	HGDP	ss3847519551	Apr 27, 2020 (154)
97	SGDP_PRJ	ss3882654902	Apr 27, 2020 (154)
98	KRGDB	ss3931782548	Apr 27, 2020 (154)
99	KOGIC	ss3975888675	Apr 27, 2020 (154)
100	EVA	ss3985709187	Apr 27, 2021 (155)
101	TOPMED	ss4986954401	Apr 27, 2021 (155)
102	TOMMO_GENOMICS	ss5215609994	Apr 27, 2021 (155)
103	1000G_HIGH_COVERAGE	ss5298004568	Oct 17, 2022 (156)
104	EVA	ss5315774596	Oct 17, 2022 (156)
105	EVA	ss5418437647	Oct 17, 2022 (156)
106	HUGCELL_USP	ss5491781950	Oct 17, 2022 (156)
107	1000G_HIGH_COVERAGE	ss5599186371	Oct 17, 2022 (156)
108	SANFORD_IMAGENETICS	ss5657261453	Oct 17, 2022 (156)
109	TOMMO_GENOMICS	ss5769241518	Oct 17, 2022 (156)
110	EVA	ss5799934166	Oct 17, 2022 (156)
111	YY_MCH	ss5815224859	Oct 17, 2022 (156)
112	EVA	ss5828034990	Oct 17, 2022 (156)
113	EVA	ss5851241218	Oct 17, 2022 (156)
114	EVA	ss5875378286	Oct 17, 2022 (156)
115	EVA	ss5948656130	Oct 17, 2022 (156)
116	1000Genomes	NC_000015.9 - 34134610	Oct 12, 2018 (152)
117	1000Genomes_30x	NC_000015.10 - 33842409	Oct 17, 2022 (156)
118	The Avon Longitudinal Study of Parents and Children	NC_000015.9 - 34134610	Oct 12, 2018 (152)
119	Genetic variation in the Estonian population	NC_000015.9 - 34134610	Oct 12, 2018 (152)
120	The Danish reference pan genome	NC_000015.9 - 34134610	Apr 27, 2020 (154)
121	gnomAD - Genomes Submission ignored due to conflicting rows: Row 465385791 (NC_000015.10:33842408:T:A 1/140172) Row 465385792 (NC_000015.10:33842408:T:C 24842/140146)	-	Apr 27, 2021 (155)
122	gnomAD - Genomes Submission ignored due to conflicting rows: Row 465385791 (NC_000015.10:33842408:T:A 1/140172) Row 465385792 (NC_000015.10:33842408:T:C 24842/140146)	-	Apr 27, 2021 (155)
123	Genome of the Netherlands Release 5	NC_000015.9 - 34134610	Apr 27, 2020 (154)
124	HGDP-CEPH-db Supplement 1	NC_000015.8 - 31921902	Apr 27, 2020 (154)
125	HapMap	NC_000015.10 - 33842409	Apr 27, 2020 (154)
126	KOREAN population from KRGDB	NC_000015.9 - 34134610	Apr 27, 2020 (154)
127	Korean Genome Project	NC_000015.10 - 33842409	Apr 27, 2020 (154)
128	Northern Sweden	NC_000015.9 - 34134610	Jul 13, 2019 (153)
129	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000015.9 - 34134610	Apr 27, 2021 (155)
130	Qatari	NC_000015.9 - 34134610	Apr 27, 2020 (154)
131	SGDP_PRJ	NC_000015.9 - 34134610	Apr 27, 2020 (154)
132	Siberian	NC_000015.9 - 34134610	Apr 27, 2020 (154)
133	8.3KJPN	NC_000015.9 - 34134610	Apr 27, 2021 (155)
134	14KJPN	NC_000015.10 - 33842409	Oct 17, 2022 (156)
135	TopMed	NC_000015.10 - 33842409	Apr 27, 2021 (155)
136	UK 10K study - Twins	NC_000015.9 - 34134610	Oct 12, 2018 (152)
137	A Vietnamese Genetic Variation Database	NC_000015.9 - 34134610	Jul 13, 2019 (153)
138	ALFA	NC_000015.10 - 33842409	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)
rs58093024	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
38959942, ss2933457327, ss3931782548	NC_000015.9:34134609:T:A	NC_000015.10:33842408:T:A	(self)
11911505182	NC_000015.10:33842408:T:A	NC_000015.10:33842408:T:A	(self)
197443, ss77230975, ss108721922, ss160527028, ss207271958, ss211591013, ss254889533, ss282207424, ss291815017, ss480501745, ss1695671325, ss1713480344, ss3639052528, ss3639835601, ss3643062631, ss3643885810, ss3847519551	NC_000015.8:31921901:T:C	NC_000015.10:33842408:T:C	(self)
66019090, 36648564, 25963842, 3807732, 16372640, 38959942, 14104284, 935114, 17106766, 34671882, 9223682, 73579301, 36648564, 8153810, ss226830347, ss236734659, ss243129816, ss480516109, ss481322440, ss485048360, ss537067797, ss660120829, ss778489362, ss782970397, ss783931978, ss832226718, ss832887705, ss833478535, ss833945345, ss991660411, ss1080028460, ss1352966200, ss1427586612, ss1577545545, ss1632736810, ss1675730843, ss1752156216, ss1935064836, ss1968078562, ss2028310653, ss2156707328, ss2628648875, ss2633213127, ss2701171858, ss2710813170, ss2933457327, ss2985036195, ss2985670093, ss3013078082, ss3351060453, ss3627331452, ss3631207167, ss3633092956, ss3633797380, ss3634599740, ss3635486401, ss3636290288, ss3637237646, ss3638077978, ss3640307063, ss3653808028, ss3680225594, ss3740819419, ss3744900289, ss3752932838, ss3772398998, ss3834173830, ss3840685151, ss3882654902, ss3931782548, ss3985709187, ss5215609994, ss5315774596, ss5418437647, ss5657261453, ss5799934166, ss5828034990, ss5948656130	NC_000015.9:34134609:T:C	NC_000015.10:33842408:T:C	(self)
86712306, 1238962, 32266676, 103078622, 202500061, 11911505182, ss2205767608, ss3027978731, ss3650328004, ss3697652274, ss3818250233, ss3846173438, ss3975888675, ss4986954401, ss5298004568, ss5491781950, ss5599186371, ss5769241518, ss5815224859, ss5851241218, ss5875378286	NC_000015.10:33842408:T:C	NC_000015.10:33842408:T:C	(self)
ss16690061, ss21279098	NT_010194.16:4925166:T:C	NC_000015.10:33842408:T:C	(self)
ss3215473, ss24138498, ss43691046, ss67240952, ss67637640, ss68201124, ss69172713, ss70719297, ss71287566, ss75582431, ss84017803, ss96802915, ss103227747, ss143452980, ss153898047, ss156401200, ss159375898, ss173241555	NT_010194.17:4925166:T:C	NC_000015.10:33842408:T:C	(self)
38959942, ss3931782548	NC_000015.9:34134609:T:G	NC_000015.10:33842408:T:G	(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 rs2278313

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

rs2278313