Name: rs7279297
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.

rs7279297

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr21:41807559 (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: A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.356156 (94271/264690, TOPMED)
G=0.313393 (52136/166360, ALFA)
G=0.346683 (48388/139574, GnomAD) (+ 21 more)
G=0.40879 (32170/78696, PAGE_STUDY)
G=0.49738 (14055/28258, 14KJPN)
G=0.49737 (8336/16760, 8.3KJPN)
G=0.4368 (2797/6404, 1000G_30x)
G=0.4413 (2210/5008, 1000G)
G=0.2844 (1274/4480, Estonian)
G=0.2750 (1060/3854, ALSPAC)
G=0.2794 (1036/3708, TWINSUK)
A=0.4908 (1438/2930, KOREAN)
G=0.4021 (838/2084, HGDP_Stanford)
G=0.4371 (827/1892, HapMap)
A=0.4913 (900/1832, Korea1K)
G=0.247 (247/998, GoNL)
A=0.462 (365/790, PRJEB37584)
G=0.305 (183/600, NorthernSweden)
A=0.352 (124/352, SGDP_PRJ)
G=0.481 (104/216, Qatari)
A=0.421 (90/214, Vietnamese)
G=0.19 (14/72, Ancient Sardinia)
A=0.29 (12/42, Siberian)
G=0.35 (14/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PRDM15 : Intron Variant
Publications: 2 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	166572	A=0.686580	G=0.313420
European	Sub	140594	A=0.706609	G=0.293391
African	Sub	5302	A=0.5436	G=0.4564
African Others	Sub	182	A=0.407	G=0.593
African American	Sub	5120	A=0.5484	G=0.4516
Asian	Sub	3218	A=0.4758	G=0.5242
East Asian	Sub	1986	A=0.4698	G=0.5302
Other Asian	Sub	1232	A=0.4854	G=0.5146
Latin American 1	Sub	270	A=0.615	G=0.385
Latin American 2	Sub	1322	A=0.7352	G=0.2648
South Asian	Sub	4978	A=0.5131	G=0.4869
Other	Sub	10888	A=0.63510	G=0.36490

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	A=0.643844	G=0.356156
Allele Frequency Aggregator	Total	Global	166360	A=0.686607	G=0.313393
Allele Frequency Aggregator	European	Sub	140416	A=0.706629	G=0.293371
Allele Frequency Aggregator	Other	Sub	10868	A=0.63544	G=0.36456
Allele Frequency Aggregator	African	Sub	5288	A=0.5433	G=0.4567
Allele Frequency Aggregator	South Asian	Sub	4978	A=0.5131	G=0.4869
Allele Frequency Aggregator	Asian	Sub	3218	A=0.4758	G=0.5242
Allele Frequency Aggregator	Latin American 2	Sub	1322	A=0.7352	G=0.2648
Allele Frequency Aggregator	Latin American 1	Sub	270	A=0.615	G=0.385
gnomAD - Genomes	Global	Study-wide	139574	A=0.653317	G=0.346683
gnomAD - Genomes	European	Sub	75734	A=0.71430	G=0.28570
gnomAD - Genomes	African	Sub	41708	A=0.53548	G=0.46452
gnomAD - Genomes	American	Sub	13562	A=0.71287	G=0.28713
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.6925	G=0.3075
gnomAD - Genomes	East Asian	Sub	3110	A=0.4608	G=0.5392
gnomAD - Genomes	Other	Sub	2136	A=0.6330	G=0.3670
The PAGE Study	Global	Study-wide	78696	A=0.59121	G=0.40879
The PAGE Study	AfricanAmerican	Sub	32512	A=0.54085	G=0.45915
The PAGE Study	Mexican	Sub	10810	A=0.72831	G=0.27169
The PAGE Study	Asian	Sub	8318	A=0.4800	G=0.5200
The PAGE Study	PuertoRican	Sub	7918	A=0.6374	G=0.3626
The PAGE Study	NativeHawaiian	Sub	4534	A=0.5132	G=0.4868
The PAGE Study	Cuban	Sub	4230	A=0.6525	G=0.3475
The PAGE Study	Dominican	Sub	3828	A=0.6152	G=0.3848
The PAGE Study	CentralAmerican	Sub	2448	A=0.7132	G=0.2868
The PAGE Study	SouthAmerican	Sub	1982	A=0.7538	G=0.2462
The PAGE Study	NativeAmerican	Sub	1260	A=0.7397	G=0.2603
The PAGE Study	SouthAsian	Sub	856	A=0.485	G=0.515
14KJPN	JAPANESE	Study-wide	28258	A=0.50262	G=0.49738
8.3KJPN	JAPANESE	Study-wide	16760	A=0.50263	G=0.49737
1000Genomes_30x	Global	Study-wide	6404	A=0.5632	G=0.4368
1000Genomes_30x	African	Sub	1786	A=0.4961	G=0.5039
1000Genomes_30x	Europe	Sub	1266	A=0.7014	G=0.2986
1000Genomes_30x	South Asian	Sub	1202	A=0.4975	G=0.5025
1000Genomes_30x	East Asian	Sub	1170	A=0.4556	G=0.5444
1000Genomes_30x	American	Sub	980	A=0.716	G=0.284
1000Genomes	Global	Study-wide	5008	A=0.5587	G=0.4413
1000Genomes	African	Sub	1322	A=0.4917	G=0.5083
1000Genomes	East Asian	Sub	1008	A=0.4534	G=0.5466
1000Genomes	Europe	Sub	1006	A=0.7028	G=0.2972
1000Genomes	South Asian	Sub	978	A=0.493	G=0.507
1000Genomes	American	Sub	694	A=0.723	G=0.277
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.7156	G=0.2844
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.7250	G=0.2750
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.7206	G=0.2794
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.4908	G=0.5092, T=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.5979	G=0.4021
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.483	G=0.517
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.614	G=0.386
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.583	G=0.417
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.684	G=0.316
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.434	G=0.566
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.861	G=0.139
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.71	G=0.29
HapMap	Global	Study-wide	1892	A=0.5629	G=0.4371
HapMap	American	Sub	770	A=0.583	G=0.417
HapMap	African	Sub	692	A=0.525	G=0.475
HapMap	Asian	Sub	254	A=0.528	G=0.472
HapMap	Europe	Sub	176	A=0.676	G=0.324
Korean Genome Project	KOREAN	Study-wide	1832	A=0.4913	G=0.5087
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.753	G=0.247
CNV burdens in cranial meningiomas	Global	Study-wide	790	A=0.462	G=0.538
CNV burdens in cranial meningiomas	CRM	Sub	790	A=0.462	G=0.538
Northern Sweden	ACPOP	Study-wide	600	A=0.695	G=0.305
SGDP_PRJ	Global	Study-wide	352	A=0.352	G=0.648
Qatari	Global	Study-wide	216	A=0.519	G=0.481
A Vietnamese Genetic Variation Database	Global	Study-wide	214	A=0.421	G=0.579
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	72	A=0.81	G=0.19
Siberian	Global	Study-wide	42	A=0.29	G=0.71
The Danish reference pan genome	Danish	Study-wide	40	A=0.65	G=0.35

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 21	NC_000021.9:g.41807559A>G
GRCh38.p14 chr 21	NC_000021.9:g.41807559A>T
GRCh37.p13 chr 21	NC_000021.8:g.43227915A>G
GRCh37.p13 chr 21	NC_000021.8:g.43227915A>T

Gene: PRDM15, PR/SET domain 15 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PRDM15 transcript variant 2	NM_001040424.3:c.2652+259… NM_001040424.3:c.2652+2595T>C	N/A	Intron Variant
PRDM15 transcript variant 3	NM_001282934.2:c.2712+259… NM_001282934.2:c.2712+2595T>C	N/A	Intron Variant
PRDM15 transcript variant 1	NM_022115.7:c.2850+2595T>C	N/A	Intron Variant
PRDM15 transcript variant 4	NR_104257.2:n.	N/A	Intron Variant
PRDM15 transcript variant 5	NR_104258.2:n.	N/A	Intron Variant
PRDM15 transcript variant 6	NR_104260.1:n.	N/A	Intron Variant
PRDM15 transcript variant 7	NR_135464.2:n.	N/A	Intron Variant
PRDM15 transcript variant X8	XM_006724039.3:c.2580+259… XM_006724039.3:c.2580+2595T>C	N/A	Intron Variant
PRDM15 transcript variant X12	XM_006724040.3:c.2520+259… XM_006724040.3:c.2520+2595T>C	N/A	Intron Variant
PRDM15 transcript variant X2	XM_011529674.2:c.2610+259… XM_011529674.2:c.2610+2595T>C	N/A	Intron Variant
PRDM15 transcript variant X3	XM_011529675.2:c.2712+259… XM_011529675.2:c.2712+2595T>C	N/A	Intron Variant
PRDM15 transcript variant X5	XM_011529676.3:c.2712+259… XM_011529676.3:c.2712+2595T>C	N/A	Intron Variant
PRDM15 transcript variant X4	XM_011529677.3:c.2712+259… XM_011529677.3:c.2712+2595T>C	N/A	Intron Variant
PRDM15 transcript variant X6	XM_011529678.3:c.2712+259… XM_011529678.3:c.2712+2595T>C	N/A	Intron Variant
PRDM15 transcript variant X7	XM_011529679.3:c.2712+259… XM_011529679.3:c.2712+2595T>C	N/A	Intron Variant
PRDM15 transcript variant X1	XM_011529681.4:c.2724+259… XM_011529681.4:c.2724+2595T>C	N/A	Intron Variant
PRDM15 transcript variant X18	XM_011529683.2:c.3201+259… XM_011529683.2:c.3201+2595T>C	N/A	Intron Variant
PRDM15 transcript variant X10	XM_017028425.2:c.2652+259… XM_017028425.2:c.2652+2595T>C	N/A	Intron Variant
PRDM15 transcript variant X9	XM_047440935.1:c.2550+259… XM_047440935.1:c.2550+2595T>C	N/A	Intron Variant
PRDM15 transcript variant X11	XM_047440936.1:c.2652+259… XM_047440936.1:c.2652+2595T>C	N/A	Intron Variant
PRDM15 transcript variant X13	XM_047440937.1:c.2580+259… XM_047440937.1:c.2580+2595T>C	N/A	Intron Variant
PRDM15 transcript variant X14	XM_047440938.1:c.2550+259… XM_047440938.1:c.2550+2595T>C	N/A	Intron Variant
PRDM15 transcript variant X15	XM_047440939.1:c.2520+259… XM_047440939.1:c.2520+2595T>C	N/A	Intron Variant
PRDM15 transcript variant X16	XM_047440940.1:c.2418+259… XM_047440940.1:c.2418+2595T>C	N/A	Intron Variant
PRDM15 transcript variant X17	XR_007067792.1:n.	N/A	Intron 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	A=	G	T
GRCh38.p14 chr 21	NC_000021.9:g.41807559=	NC_000021.9:g.41807559A>G	NC_000021.9:g.41807559A>T
GRCh37.p13 chr 21	NC_000021.8:g.43227915=	NC_000021.8:g.43227915A>G	NC_000021.8:g.43227915A>T
PRDM15 transcript variant 2	NM_001040424.1:c.2763+2595=	NM_001040424.1:c.2763+2595T>C	NM_001040424.1:c.2763+2595T>A
PRDM15 transcript variant 2	NM_001040424.3:c.2652+2595=	NM_001040424.3:c.2652+2595T>C	NM_001040424.3:c.2652+2595T>A
PRDM15 transcript variant 3	NM_001282934.2:c.2712+2595=	NM_001282934.2:c.2712+2595T>C	NM_001282934.2:c.2712+2595T>A
PRDM15 transcript variant 1	NM_022115.3:c.3750+2595=	NM_022115.3:c.3750+2595T>C	NM_022115.3:c.3750+2595T>A
PRDM15 transcript variant 1	NM_022115.7:c.2850+2595=	NM_022115.7:c.2850+2595T>C	NM_022115.7:c.2850+2595T>A
PRDM15 transcript variant X1	XM_005261162.1:c.2823+2595=	XM_005261162.1:c.2823+2595T>C	XM_005261162.1:c.2823+2595T>A
PRDM15 transcript variant X8	XM_006724039.3:c.2580+2595=	XM_006724039.3:c.2580+2595T>C	XM_006724039.3:c.2580+2595T>A
PRDM15 transcript variant X12	XM_006724040.3:c.2520+2595=	XM_006724040.3:c.2520+2595T>C	XM_006724040.3:c.2520+2595T>A
PRDM15 transcript variant X2	XM_011529674.2:c.2610+2595=	XM_011529674.2:c.2610+2595T>C	XM_011529674.2:c.2610+2595T>A
PRDM15 transcript variant X3	XM_011529675.2:c.2712+2595=	XM_011529675.2:c.2712+2595T>C	XM_011529675.2:c.2712+2595T>A
PRDM15 transcript variant X5	XM_011529676.3:c.2712+2595=	XM_011529676.3:c.2712+2595T>C	XM_011529676.3:c.2712+2595T>A
PRDM15 transcript variant X4	XM_011529677.3:c.2712+2595=	XM_011529677.3:c.2712+2595T>C	XM_011529677.3:c.2712+2595T>A
PRDM15 transcript variant X6	XM_011529678.3:c.2712+2595=	XM_011529678.3:c.2712+2595T>C	XM_011529678.3:c.2712+2595T>A
PRDM15 transcript variant X7	XM_011529679.3:c.2712+2595=	XM_011529679.3:c.2712+2595T>C	XM_011529679.3:c.2712+2595T>A
PRDM15 transcript variant X1	XM_011529681.4:c.2724+2595=	XM_011529681.4:c.2724+2595T>C	XM_011529681.4:c.2724+2595T>A
PRDM15 transcript variant X18	XM_011529683.2:c.3201+2595=	XM_011529683.2:c.3201+2595T>C	XM_011529683.2:c.3201+2595T>A
PRDM15 transcript variant X10	XM_017028425.2:c.2652+2595=	XM_017028425.2:c.2652+2595T>C	XM_017028425.2:c.2652+2595T>A
PRDM15 transcript variant X9	XM_047440935.1:c.2550+2595=	XM_047440935.1:c.2550+2595T>C	XM_047440935.1:c.2550+2595T>A
PRDM15 transcript variant X11	XM_047440936.1:c.2652+2595=	XM_047440936.1:c.2652+2595T>C	XM_047440936.1:c.2652+2595T>A
PRDM15 transcript variant X13	XM_047440937.1:c.2580+2595=	XM_047440937.1:c.2580+2595T>C	XM_047440937.1:c.2580+2595T>A
PRDM15 transcript variant X14	XM_047440938.1:c.2550+2595=	XM_047440938.1:c.2550+2595T>C	XM_047440938.1:c.2550+2595T>A
PRDM15 transcript variant X15	XM_047440939.1:c.2520+2595=	XM_047440939.1:c.2520+2595T>C	XM_047440939.1:c.2520+2595T>A
PRDM15 transcript variant X16	XM_047440940.1:c.2418+2595=	XM_047440940.1:c.2418+2595T>C	XM_047440940.1:c.2418+2595T>A

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#.

127 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10983114	Jul 11, 2003 (116)
2	CSHL-HAPMAP	ss17705395	Feb 27, 2004 (120)
3	ABI	ss44250467	Mar 13, 2006 (126)
4	ILLUMINA	ss66658330	Nov 30, 2006 (127)
5	ILLUMINA	ss67564407	Nov 30, 2006 (127)
6	ILLUMINA	ss67942866	Nov 30, 2006 (127)
7	PERLEGEN	ss69255094	May 17, 2007 (127)
8	ILLUMINA	ss70920612	May 24, 2008 (130)
9	ILLUMINA	ss71520372	May 17, 2007 (127)
10	ILLUMINA	ss75521955	Dec 06, 2007 (129)
11	ILLUMINA	ss79252698	Dec 15, 2007 (130)
12	KRIBB_YJKIM	ss84649538	Dec 15, 2007 (130)
13	BCMHGSC_JDW	ss91849194	Mar 24, 2008 (129)
14	BGI	ss103831422	Dec 01, 2009 (131)
15	1000GENOMES	ss112500945	Jan 25, 2009 (130)
16	ILLUMINA	ss122730948	Dec 01, 2009 (131)
17	ENSEMBL	ss138322221	Dec 01, 2009 (131)
18	ILLUMINA	ss154417291	Dec 01, 2009 (131)
19	ILLUMINA	ss159592386	Dec 01, 2009 (131)
20	ENSEMBL	ss161364440	Dec 01, 2009 (131)
21	COMPLETE_GENOMICS	ss168101378	Jul 04, 2010 (132)
22	ILLUMINA	ss172273754	Jul 04, 2010 (132)
23	ILLUMINA	ss174318639	Jul 04, 2010 (132)
24	BUSHMAN	ss204027429	Jul 04, 2010 (132)
25	1000GENOMES	ss228583082	Jul 14, 2010 (132)
26	1000GENOMES	ss237995550	Jul 15, 2010 (132)
27	1000GENOMES	ss244131725	Jul 15, 2010 (132)
28	GMI	ss283554574	May 04, 2012 (137)
29	ILLUMINA	ss484212243	May 04, 2012 (137)
30	ILLUMINA	ss484276144	May 04, 2012 (137)
31	EXOME_CHIP	ss491566082	May 04, 2012 (137)
32	ILLUMINA	ss537458886	Sep 08, 2015 (146)
33	TISHKOFF	ss566517596	Apr 25, 2013 (138)
34	SSMP	ss662428300	Apr 25, 2013 (138)
35	ILLUMINA	ss778711324	Sep 08, 2015 (146)
36	ILLUMINA	ss780568938	Sep 08, 2015 (146)
37	ILLUMINA	ss780686439	Sep 08, 2015 (146)
38	ILLUMINA	ss782552119	Sep 08, 2015 (146)
39	ILLUMINA	ss783359962	Sep 08, 2015 (146)
40	ILLUMINA	ss825583216	Jul 19, 2016 (147)
41	ILLUMINA	ss833103413	Jul 13, 2019 (153)
42	ILLUMINA	ss834170489	Sep 08, 2015 (146)
43	ILLUMINA	ss836061379	Sep 08, 2015 (146)
44	EVA-GONL	ss995151964	Aug 21, 2014 (142)
45	JMKIDD_LAB	ss1082525597	Aug 21, 2014 (142)
46	1000GENOMES	ss1366412949	Aug 21, 2014 (142)
47	DDI	ss1429194881	Apr 01, 2015 (144)
48	EVA_GENOME_DK	ss1579676738	Apr 01, 2015 (144)
49	EVA_UK10K_ALSPAC	ss1639629764	Apr 01, 2015 (144)
50	EVA_UK10K_TWINSUK	ss1682623797	Apr 01, 2015 (144)
51	EVA_DECODE	ss1699223956	Apr 01, 2015 (144)
52	EVA_SVP	ss1713726287	Apr 01, 2015 (144)
53	ILLUMINA	ss1752409641	Sep 08, 2015 (146)
54	HAMMER_LAB	ss1809702838	Sep 08, 2015 (146)
55	ILLUMINA	ss1917951696	Feb 12, 2016 (147)
56	WEILL_CORNELL_DGM	ss1938702301	Feb 12, 2016 (147)
57	ILLUMINA	ss1946569239	Feb 12, 2016 (147)
58	ILLUMINA	ss1959956249	Feb 12, 2016 (147)
59	JJLAB	ss2030125122	Sep 14, 2016 (149)
60	ILLUMINA	ss2095119611	Dec 20, 2016 (150)
61	USC_VALOUEV	ss2158730225	Dec 20, 2016 (150)
62	HUMAN_LONGEVITY	ss2246032217	Dec 20, 2016 (150)
63	SYSTEMSBIOZJU	ss2629562163	Nov 08, 2017 (151)
64	ILLUMINA	ss2633853683	Nov 08, 2017 (151)
65	ILLUMINA	ss2633853684	Nov 08, 2017 (151)
66	GRF	ss2704461862	Nov 08, 2017 (151)
67	GNOMAD	ss2972139431	Nov 08, 2017 (151)
68	AFFY	ss2985229855	Nov 08, 2017 (151)
69	SWEGEN	ss3018943835	Nov 08, 2017 (151)
70	ILLUMINA	ss3022162356	Nov 08, 2017 (151)
71	BIOINF_KMB_FNS_UNIBA	ss3028902301	Nov 08, 2017 (151)
72	CSHL	ss3352734710	Nov 08, 2017 (151)
73	ILLUMINA	ss3625797911	Oct 12, 2018 (152)
74	ILLUMINA	ss3628489249	Oct 12, 2018 (152)
75	ILLUMINA	ss3628489250	Oct 12, 2018 (152)
76	ILLUMINA	ss3631807014	Oct 12, 2018 (152)
77	ILLUMINA	ss3631807015	Oct 12, 2018 (152)
78	ILLUMINA	ss3634856527	Oct 12, 2018 (152)
79	ILLUMINA	ss3638370053	Oct 12, 2018 (152)
80	ILLUMINA	ss3639189048	Oct 12, 2018 (152)
81	ILLUMINA	ss3639610354	Oct 12, 2018 (152)
82	ILLUMINA	ss3640563827	Oct 12, 2018 (152)
83	ILLUMINA	ss3642206897	Oct 12, 2018 (152)
84	ILLUMINA	ss3643330859	Oct 12, 2018 (152)
85	ILLUMINA	ss3644793514	Oct 12, 2018 (152)
86	ILLUMINA	ss3652622670	Oct 12, 2018 (152)
87	ILLUMINA	ss3652622671	Oct 12, 2018 (152)
88	ILLUMINA	ss3653997730	Oct 12, 2018 (152)
89	EGCUT_WGS	ss3685521535	Jul 13, 2019 (153)
90	EVA_DECODE	ss3707797076	Jul 13, 2019 (153)
91	ILLUMINA	ss3725950630	Jul 13, 2019 (153)
92	ACPOP	ss3743761176	Jul 13, 2019 (153)
93	ILLUMINA	ss3744498687	Jul 13, 2019 (153)
94	ILLUMINA	ss3745156380	Jul 13, 2019 (153)
95	EVA	ss3759147578	Jul 13, 2019 (153)
96	PAGE_CC	ss3772076285	Jul 13, 2019 (153)
97	ILLUMINA	ss3772652424	Jul 13, 2019 (153)
98	PACBIO	ss3788772660	Jul 13, 2019 (153)
99	PACBIO	ss3793645718	Jul 13, 2019 (153)
100	PACBIO	ss3798532016	Jul 13, 2019 (153)
101	KHV_HUMAN_GENOMES	ss3822314135	Jul 13, 2019 (153)
102	EVA	ss3835892213	Apr 27, 2020 (154)
103	EVA	ss3841573648	Apr 27, 2020 (154)
104	EVA	ss3847087295	Apr 27, 2020 (154)
105	HGDP	ss3847682409	Apr 27, 2020 (154)
106	SGDP_PRJ	ss3890071099	Apr 27, 2020 (154)
107	KRGDB	ss3940416684	Apr 27, 2020 (154)
108	KOGIC	ss3983156025	Apr 27, 2020 (154)
109	EVA	ss3984756989	Apr 26, 2021 (155)
110	EVA	ss3985906233	Apr 26, 2021 (155)
111	EVA	ss4017869999	Apr 26, 2021 (155)
112	TOPMED	ss5102684490	Apr 26, 2021 (155)
113	TOMMO_GENOMICS	ss5231672045	Apr 26, 2021 (155)
114	1000G_HIGH_COVERAGE	ss5310329031	Oct 16, 2022 (156)
115	EVA	ss5316041304	Oct 16, 2022 (156)
116	EVA	ss5440091095	Oct 16, 2022 (156)
117	HUGCELL_USP	ss5502367110	Oct 16, 2022 (156)
118	1000G_HIGH_COVERAGE	ss5617522848	Oct 16, 2022 (156)
119	SANFORD_IMAGENETICS	ss5624497703	Oct 16, 2022 (156)
120	SANFORD_IMAGENETICS	ss5664078538	Oct 16, 2022 (156)
121	TOMMO_GENOMICS	ss5792224682	Oct 16, 2022 (156)
122	YY_MCH	ss5818472338	Oct 16, 2022 (156)
123	EVA	ss5839085718	Oct 16, 2022 (156)
124	EVA	ss5853320276	Oct 16, 2022 (156)
125	EVA	ss5892485306	Oct 16, 2022 (156)
126	EVA	ss5958977112	Oct 16, 2022 (156)
127	EVA	ss5981117168	Oct 16, 2022 (156)
128	1000Genomes	NC_000021.8 - 43227915	Oct 12, 2018 (152)
129	1000Genomes_30x	NC_000021.9 - 41807559	Oct 16, 2022 (156)
130	The Avon Longitudinal Study of Parents and Children	NC_000021.8 - 43227915	Oct 12, 2018 (152)
131	Genetic variation in the Estonian population	NC_000021.8 - 43227915	Oct 12, 2018 (152)
132	The Danish reference pan genome	NC_000021.8 - 43227915	Apr 27, 2020 (154)
133	gnomAD - Genomes	NC_000021.9 - 41807559	Apr 26, 2021 (155)
134	Genome of the Netherlands Release 5	NC_000021.8 - 43227915	Apr 27, 2020 (154)
135	HGDP-CEPH-db Supplement 1	NC_000021.7 - 42100984	Apr 27, 2020 (154)
136	HapMap	NC_000021.9 - 41807559	Apr 27, 2020 (154)
137	KOREAN population from KRGDB	NC_000021.8 - 43227915	Apr 27, 2020 (154)
138	Korean Genome Project	NC_000021.9 - 41807559	Apr 27, 2020 (154)
139	Northern Sweden	NC_000021.8 - 43227915	Jul 13, 2019 (153)
140	The PAGE Study	NC_000021.9 - 41807559	Jul 13, 2019 (153)
141	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000021.8 - 43227915	Apr 26, 2021 (155)
142	CNV burdens in cranial meningiomas	NC_000021.8 - 43227915	Apr 26, 2021 (155)
143	Qatari	NC_000021.8 - 43227915	Apr 27, 2020 (154)
144	SGDP_PRJ	NC_000021.8 - 43227915	Apr 27, 2020 (154)
145	Siberian	NC_000021.8 - 43227915	Apr 27, 2020 (154)
146	8.3KJPN	NC_000021.8 - 43227915	Apr 26, 2021 (155)
147	14KJPN	NC_000021.9 - 41807559	Oct 16, 2022 (156)
148	TopMed	NC_000021.9 - 41807559	Apr 26, 2021 (155)
149	UK 10K study - Twins	NC_000021.8 - 43227915	Oct 12, 2018 (152)
150	A Vietnamese Genetic Variation Database	NC_000021.8 - 43227915	Jul 13, 2019 (153)
151	ALFA	NC_000021.9 - 41807559	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)
rs58266650	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
360301, ss91849194, ss112500945, ss168101378, ss204027429, ss283554574, ss484276144, ss825583216, ss1699223956, ss1713726287, ss3639189048, ss3639610354, ss3643330859, ss3847682409	NC_000021.7:42100983:A:G	NC_000021.9:41807558:A:G	(self)
79937613, 44244488, 31259783, 5841677, 19708972, 47594078, 17046041, 1132160, 306568, 20744223, 42088079, 11246579, 89641352, 44244488, 9762995, ss228583082, ss237995550, ss244131725, ss484212243, ss491566082, ss537458886, ss566517596, ss662428300, ss778711324, ss780568938, ss780686439, ss782552119, ss783359962, ss833103413, ss834170489, ss836061379, ss995151964, ss1082525597, ss1366412949, ss1429194881, ss1579676738, ss1639629764, ss1682623797, ss1752409641, ss1809702838, ss1917951696, ss1938702301, ss1946569239, ss1959956249, ss2030125122, ss2095119611, ss2158730225, ss2629562163, ss2633853683, ss2633853684, ss2704461862, ss2972139431, ss2985229855, ss3018943835, ss3022162356, ss3352734710, ss3625797911, ss3628489249, ss3628489250, ss3631807014, ss3631807015, ss3634856527, ss3638370053, ss3640563827, ss3642206897, ss3644793514, ss3652622670, ss3652622671, ss3653997730, ss3685521535, ss3743761176, ss3744498687, ss3745156380, ss3759147578, ss3772652424, ss3788772660, ss3793645718, ss3798532016, ss3835892213, ss3841573648, ss3890071099, ss3940416684, ss3984756989, ss3985906233, ss4017869999, ss5231672045, ss5316041304, ss5440091095, ss5624497703, ss5664078538, ss5839085718, ss5958977112, ss5981117168	NC_000021.8:43227914:A:G	NC_000021.9:41807558:A:G	(self)
105048783, 564062998, 2216024, 39534026, 1297754, 126061786, 377793436, 6553927075, ss2246032217, ss3028902301, ss3707797076, ss3725950630, ss3772076285, ss3822314135, ss3847087295, ss3983156025, ss5102684490, ss5310329031, ss5502367110, ss5617522848, ss5792224682, ss5818472338, ss5853320276, ss5892485306	NC_000021.9:41807558:A:G	NC_000021.9:41807558:A:G	(self)
ss44250467, ss66658330, ss67564407, ss67942866, ss69255094, ss70920612, ss71520372, ss75521955, ss79252698, ss84649538, ss103831422, ss122730948, ss138322221, ss154417291, ss159592386, ss161364440, ss172273754, ss174318639	NT_011515.12:222355:A:G	NC_000021.9:41807558:A:G	(self)
ss10983114, ss17705395	NT_030187.1:220160:A:G	NC_000021.9:41807558:A:G	(self)
47594078, ss3940416684	NC_000021.8:43227914:A:T	NC_000021.9:41807558:A:T	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

2 citations for rs7279297

PMID	Title	Author	Year	Journal
19340012	Genome-wide association study of tanning phenotype in a population of European ancestry.	Nan H et al.	2009	The Journal of investigative dermatology
24924479	Skin pigmentation, sun exposure and vitamin D levels in children of the Avon Longitudinal Study of Parents and Children.	Bonilla C et al.	2014	BMC public health

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

rs7279297