Name: rs2281170
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.

rs2281170

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:13797603 (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: G>A / G>C / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.425894 (112730/264690, TOPMED)
A=0.378850 (77693/205076, GENOGRAPHIC)
A=0.387800 (56694/146194, ALFA) (+ 21 more)
A=0.422358 (59147/140040, GnomAD)
A=0.43873 (34522/78686, PAGE_STUDY)
A=0.29241 (8263/28258, 14KJPN)
A=0.29195 (4893/16760, 8.3KJPN)
A=0.3866 (2476/6404, 1000G_30x)
A=0.3812 (1909/5008, 1000G)
A=0.3181 (1425/4480, Estonian)
A=0.3840 (1480/3854, ALSPAC)
A=0.3811 (1413/3708, TWINSUK)
A=0.2440 (715/2930, KOREAN)
A=0.3631 (756/2082, HGDP_Stanford)
A=0.4342 (818/1884, HapMap)
A=0.3426 (381/1112, Daghestan)
A=0.365 (364/998, GoNL)
A=0.220 (170/774, PRJEB37584)
A=0.313 (188/600, NorthernSweden)
G=0.359 (112/312, SGDP_PRJ)
A=0.481 (104/216, Qatari)
G=0.35 (34/96, Ancient Sardinia)
A=0.42 (17/40, GENOME_DK)
G=0.42 (10/24, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PRDM2 : 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	146194	G=0.612200	A=0.387800, T=0.000000
European	Sub	123558	G=0.615209	A=0.384791, T=0.000000
African	Sub	8734	G=0.4383	A=0.5617, T=0.0000
African Others	Sub	312	G=0.420	A=0.580, T=0.000
African American	Sub	8422	G=0.4390	A=0.5610, T=0.0000
Asian	Sub	428	G=0.710	A=0.290, T=0.000
East Asian	Sub	316	G=0.706	A=0.294, T=0.000
Other Asian	Sub	112	G=0.723	A=0.277, T=0.000
Latin American 1	Sub	720	G=0.592	A=0.408, T=0.000
Latin American 2	Sub	2576	G=0.6790	A=0.3210, T=0.0000
South Asian	Sub	5012	G=0.7943	A=0.2057, T=0.0000
Other	Sub	5166	G=0.6190	A=0.3810, 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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	G=0.574106	A=0.425894
Genographic Project	Global	Study-wide	205076	G=0.621150	A=0.378850, T=0.000000
Allele Frequency Aggregator	Total	Global	146194	G=0.612200	A=0.387800, T=0.000000
Allele Frequency Aggregator	European	Sub	123558	G=0.615209	A=0.384791, T=0.000000
Allele Frequency Aggregator	African	Sub	8734	G=0.4383	A=0.5617, T=0.0000
Allele Frequency Aggregator	Other	Sub	5166	G=0.6190	A=0.3810, T=0.0000
Allele Frequency Aggregator	South Asian	Sub	5012	G=0.7943	A=0.2057, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	2576	G=0.6790	A=0.3210, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	720	G=0.592	A=0.408, T=0.000
Allele Frequency Aggregator	Asian	Sub	428	G=0.710	A=0.290, T=0.000
gnomAD - Genomes	Global	Study-wide	140040	G=0.577642	A=0.422358
gnomAD - Genomes	European	Sub	75852	G=0.63868	A=0.36132
gnomAD - Genomes	African	Sub	41944	G=0.43909	A=0.56091
gnomAD - Genomes	American	Sub	13648	G=0.64456	A=0.35544
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	G=0.5373	A=0.4627
gnomAD - Genomes	East Asian	Sub	3128	G=0.7225	A=0.2775
gnomAD - Genomes	Other	Sub	2144	G=0.5541	A=0.4459
The PAGE Study	Global	Study-wide	78686	G=0.56127	A=0.43873
The PAGE Study	AfricanAmerican	Sub	32510	G=0.44546	A=0.55454
The PAGE Study	Mexican	Sub	10810	G=0.69177	A=0.30823
The PAGE Study	Asian	Sub	8318	G=0.7017	A=0.2983
The PAGE Study	PuertoRican	Sub	7914	G=0.5744	A=0.4256
The PAGE Study	NativeHawaiian	Sub	4532	G=0.6820	A=0.3180
The PAGE Study	Cuban	Sub	4228	G=0.5452	A=0.4548
The PAGE Study	Dominican	Sub	3826	G=0.5026	A=0.4974
The PAGE Study	CentralAmerican	Sub	2450	G=0.6718	A=0.3282
The PAGE Study	SouthAmerican	Sub	1982	G=0.6897	A=0.3103
The PAGE Study	NativeAmerican	Sub	1260	G=0.6198	A=0.3802
The PAGE Study	SouthAsian	Sub	856	G=0.827	A=0.173
14KJPN	JAPANESE	Study-wide	28258	G=0.70759	A=0.29241
8.3KJPN	JAPANESE	Study-wide	16760	G=0.70805	A=0.29195
1000Genomes_30x	Global	Study-wide	6404	G=0.6134	A=0.3866
1000Genomes_30x	African	Sub	1786	G=0.3858	A=0.6142
1000Genomes_30x	Europe	Sub	1266	G=0.5893	A=0.4107
1000Genomes_30x	South Asian	Sub	1202	G=0.8361	A=0.1639
1000Genomes_30x	East Asian	Sub	1170	G=0.7111	A=0.2889
1000Genomes_30x	American	Sub	980	G=0.669	A=0.331
1000Genomes	Global	Study-wide	5008	G=0.6188	A=0.3812
1000Genomes	African	Sub	1322	G=0.3812	A=0.6188
1000Genomes	East Asian	Sub	1008	G=0.7212	A=0.2788
1000Genomes	Europe	Sub	1006	G=0.5915	A=0.4085
1000Genomes	South Asian	Sub	978	G=0.834	A=0.166
1000Genomes	American	Sub	694	G=0.659	A=0.341
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.6819	A=0.3181
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.6160	A=0.3840
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.6189	A=0.3811
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.7556	A=0.2440, C=0.0003
HGDP-CEPH-db Supplement 1	Global	Study-wide	2082	G=0.6369	A=0.3631
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	G=0.760	A=0.240
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	G=0.739	A=0.261
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	348	G=0.523	A=0.477
HGDP-CEPH-db Supplement 1	Europe	Sub	320	G=0.584	A=0.416
HGDP-CEPH-db Supplement 1	Africa	Sub	242	G=0.450	A=0.550
HGDP-CEPH-db Supplement 1	America	Sub	216	G=0.773	A=0.227
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	G=0.25	A=0.75
HapMap	Global	Study-wide	1884	G=0.5658	A=0.4342
HapMap	American	Sub	770	G=0.674	A=0.326
HapMap	African	Sub	684	G=0.398	A=0.602
HapMap	Asian	Sub	254	G=0.697	A=0.303
HapMap	Europe	Sub	176	G=0.557	A=0.443
Genome-wide autozygosity in Daghestan	Global	Study-wide	1112	G=0.6574	A=0.3426
Genome-wide autozygosity in Daghestan	Daghestan	Sub	610	G=0.643	A=0.357
Genome-wide autozygosity in Daghestan	Near_East	Sub	142	G=0.634	A=0.366
Genome-wide autozygosity in Daghestan	Central Asia	Sub	120	G=0.717	A=0.283
Genome-wide autozygosity in Daghestan	Europe	Sub	108	G=0.611	A=0.389
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	G=0.78	A=0.22
Genome-wide autozygosity in Daghestan	Caucasus	Sub	34	G=0.62	A=0.38
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.635	A=0.365
CNV burdens in cranial meningiomas	Global	Study-wide	774	G=0.780	A=0.220
CNV burdens in cranial meningiomas	CRM	Sub	774	G=0.780	A=0.220
Northern Sweden	ACPOP	Study-wide	600	G=0.687	A=0.313
SGDP_PRJ	Global	Study-wide	312	G=0.359	A=0.641
Qatari	Global	Study-wide	216	G=0.519	A=0.481
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	96	G=0.35	A=0.65
The Danish reference pan genome	Danish	Study-wide	40	G=0.57	A=0.42
Siberian	Global	Study-wide	24	G=0.42	A=0.58

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.13797603G>A
GRCh38.p14 chr 1	NC_000001.11:g.13797603G>C
GRCh38.p14 chr 1	NC_000001.11:g.13797603G>T
GRCh37.p13 chr 1	NC_000001.10:g.14124098G>A
GRCh37.p13 chr 1	NC_000001.10:g.14124098G>C
GRCh37.p13 chr 1	NC_000001.10:g.14124098G>T

Gene: PRDM2, PR/SET domain 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PRDM2 transcript variant 4	NM_001135610.2:c.512-1882… NM_001135610.2:c.512-18824G>A	N/A	Intron Variant
PRDM2 transcript variant 5	NM_001393986.1:c.5036+147… NM_001393986.1:c.5036+14772G>A	N/A	Intron Variant
PRDM2 transcript variant 6	NM_001393987.1:c.4433+147… NM_001393987.1:c.4433+14772G>A	N/A	Intron Variant
PRDM2 transcript variant 1	NM_012231.5:c.5036+14772G… NM_012231.5:c.5036+14772G>A	N/A	Intron Variant
PRDM2 transcript variant 3	NM_001007257.3:c.	N/A	Genic Downstream Transcript Variant
PRDM2 transcript variant 7	NM_001393988.1:c.	N/A	Genic Downstream Transcript Variant
PRDM2 transcript variant 2	NM_015866.6:c.	N/A	Genic Downstream Transcript Variant
PRDM2 transcript variant X5	XM_017002260.3:c.4433+147… XM_017002260.3:c.4433+14772G>A	N/A	Intron Variant
PRDM2 transcript variant X6	XM_017002261.3:c.4433+147… XM_017002261.3:c.4433+14772G>A	N/A	Intron Variant
PRDM2 transcript variant X1	XM_047429994.1:c.4814+147… XM_047429994.1:c.4814+14772G>A	N/A	Intron Variant
PRDM2 transcript variant X3	XM_047429996.1:c.5033+147… XM_047429996.1:c.5033+14772G>A	N/A	Intron Variant
PRDM2 transcript variant X4	XM_047429997.1:c.4433+147… XM_047429997.1:c.4433+14772G>A	N/A	Intron Variant
PRDM2 transcript variant X2	XM_047429995.1:c.	N/A	Genic Downstream Transcript Variant
PRDM2 transcript variant X7	XM_047429998.1:c.	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	G=	A	C	T
GRCh38.p14 chr 1	NC_000001.11:g.13797603=	NC_000001.11:g.13797603G>A	NC_000001.11:g.13797603G>C	NC_000001.11:g.13797603G>T
GRCh37.p13 chr 1	NC_000001.10:g.14124098=	NC_000001.10:g.14124098G>A	NC_000001.10:g.14124098G>C	NC_000001.10:g.14124098G>T
PRDM2 transcript variant 4	NM_001135610.1:c.512-18824=	NM_001135610.1:c.512-18824G>A	NM_001135610.1:c.512-18824G>C	NM_001135610.1:c.512-18824G>T
PRDM2 transcript variant 4	NM_001135610.2:c.512-18824=	NM_001135610.2:c.512-18824G>A	NM_001135610.2:c.512-18824G>C	NM_001135610.2:c.512-18824G>T
PRDM2 transcript variant 5	NM_001393986.1:c.5036+14772=	NM_001393986.1:c.5036+14772G>A	NM_001393986.1:c.5036+14772G>C	NM_001393986.1:c.5036+14772G>T
PRDM2 transcript variant 6	NM_001393987.1:c.4433+14772=	NM_001393987.1:c.4433+14772G>A	NM_001393987.1:c.4433+14772G>C	NM_001393987.1:c.4433+14772G>T
PRDM2 transcript variant 1	NM_012231.4:c.5036+14772=	NM_012231.4:c.5036+14772G>A	NM_012231.4:c.5036+14772G>C	NM_012231.4:c.5036+14772G>T
PRDM2 transcript variant 1	NM_012231.5:c.5036+14772=	NM_012231.5:c.5036+14772G>A	NM_012231.5:c.5036+14772G>C	NM_012231.5:c.5036+14772G>T
PRDM2 transcript variant X1	XM_005245992.1:c.5066+14772=	XM_005245992.1:c.5066+14772G>A	XM_005245992.1:c.5066+14772G>C	XM_005245992.1:c.5066+14772G>T
PRDM2 transcript variant X2	XM_005245993.1:c.5036+14772=	XM_005245993.1:c.5036+14772G>A	XM_005245993.1:c.5036+14772G>C	XM_005245993.1:c.5036+14772G>T
PRDM2 transcript variant X3	XM_005245994.1:c.5033+14772=	XM_005245994.1:c.5033+14772G>A	XM_005245994.1:c.5033+14772G>C	XM_005245994.1:c.5033+14772G>T
PRDM2 transcript variant X5	XM_005245996.1:c.4814+14772=	XM_005245996.1:c.4814+14772G>A	XM_005245996.1:c.4814+14772G>C	XM_005245996.1:c.4814+14772G>T
PRDM2 transcript variant X6	XM_005245997.1:c.4433+14772=	XM_005245997.1:c.4433+14772G>A	XM_005245997.1:c.4433+14772G>C	XM_005245997.1:c.4433+14772G>T
PRDM2 transcript variant X5	XM_017002260.3:c.4433+14772=	XM_017002260.3:c.4433+14772G>A	XM_017002260.3:c.4433+14772G>C	XM_017002260.3:c.4433+14772G>T
PRDM2 transcript variant X6	XM_017002261.3:c.4433+14772=	XM_017002261.3:c.4433+14772G>A	XM_017002261.3:c.4433+14772G>C	XM_017002261.3:c.4433+14772G>T
PRDM2 transcript variant X1	XM_047429994.1:c.4814+14772=	XM_047429994.1:c.4814+14772G>A	XM_047429994.1:c.4814+14772G>C	XM_047429994.1:c.4814+14772G>T
PRDM2 transcript variant X3	XM_047429996.1:c.5033+14772=	XM_047429996.1:c.5033+14772G>A	XM_047429996.1:c.5033+14772G>C	XM_047429996.1:c.5033+14772G>T
PRDM2 transcript variant X4	XM_047429997.1:c.4433+14772=	XM_047429997.1:c.4433+14772G>A	XM_047429997.1:c.4433+14772G>C	XM_047429997.1:c.4433+14772G>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#.

123 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss3219541	Sep 28, 2001 (100)
2	CSHL-HAPMAP	ss16398635	Feb 27, 2004 (120)
3	ABI	ss44104788	Mar 14, 2006 (126)
4	ILLUMINA	ss66806603	Nov 30, 2006 (127)
5	ILLUMINA	ss67241471	Nov 30, 2006 (127)
6	ILLUMINA	ss67638193	Nov 30, 2006 (127)
7	ILLUMINA	ss70719820	May 24, 2008 (130)
8	ILLUMINA	ss71288123	May 17, 2007 (127)
9	ILLUMINA	ss75833354	Dec 07, 2007 (129)
10	HGSV	ss77785066	Dec 07, 2007 (129)
11	ILLUMINA	ss79126028	Dec 14, 2007 (130)
12	HGSV	ss80992744	Dec 14, 2007 (130)
13	KRIBB_YJKIM	ss84019346	Dec 14, 2007 (130)
14	HGSV	ss86127256	Dec 14, 2007 (130)
15	BGI	ss105122122	Dec 01, 2009 (131)
16	1000GENOMES	ss108000512	Jan 22, 2009 (130)
17	1000GENOMES	ss110075293	Jan 24, 2009 (130)
18	ILLUMINA-UK	ss118506599	Feb 14, 2009 (130)
19	ILLUMINA	ss121982350	Dec 01, 2009 (131)
20	ILLUMINA	ss153898597	Dec 01, 2009 (131)
21	ILLUMINA	ss159376439	Dec 01, 2009 (131)
22	ILLUMINA	ss160527932	Dec 01, 2009 (131)
23	ENSEMBL	ss161166814	Dec 01, 2009 (131)
24	COMPLETE_GENOMICS	ss163089938	Jul 04, 2010 (132)
25	COMPLETE_GENOMICS	ss163848632	Jul 04, 2010 (132)
26	ILLUMINA	ss171154318	Jul 04, 2010 (132)
27	ILLUMINA	ss173245928	Jul 04, 2010 (132)
28	BUSHMAN	ss198041274	Jul 04, 2010 (132)
29	1000GENOMES	ss218244069	Jul 14, 2010 (132)
30	1000GENOMES	ss230432163	Jul 14, 2010 (132)
31	1000GENOMES	ss238146610	Jul 15, 2010 (132)
32	BL	ss252926282	May 09, 2011 (134)
33	GMI	ss275721201	May 04, 2012 (137)
34	PJP	ss290625978	May 09, 2011 (134)
35	ILLUMINA	ss480504744	May 04, 2012 (137)
36	ILLUMINA	ss480519056	May 04, 2012 (137)
37	ILLUMINA	ss481326101	Sep 08, 2015 (146)
38	ILLUMINA	ss485049827	May 04, 2012 (137)
39	ILLUMINA	ss537068712	Sep 08, 2015 (146)
40	TISHKOFF	ss553813501	Apr 25, 2013 (138)
41	SSMP	ss647588172	Apr 25, 2013 (138)
42	ILLUMINA	ss778489677	Sep 08, 2015 (146)
43	ILLUMINA	ss782971132	Sep 08, 2015 (146)
44	ILLUMINA	ss783932658	Sep 08, 2015 (146)
45	ILLUMINA	ss825456546	Apr 01, 2015 (144)
46	ILLUMINA	ss832227463	Sep 08, 2015 (146)
47	ILLUMINA	ss832888242	Jul 12, 2019 (153)
48	ILLUMINA	ss833945665	Sep 08, 2015 (146)
49	EVA-GONL	ss974872609	Aug 21, 2014 (142)
50	JMKIDD_LAB	ss1067680740	Aug 21, 2014 (142)
51	1000GENOMES	ss1289750816	Aug 21, 2014 (142)
52	HAMMER_LAB	ss1397239935	Sep 08, 2015 (146)
53	DDI	ss1425717992	Apr 01, 2015 (144)
54	EVA_GENOME_DK	ss1573896830	Apr 01, 2015 (144)
55	EVA_DECODE	ss1584229846	Apr 01, 2015 (144)
56	EVA_UK10K_ALSPAC	ss1599579667	Apr 01, 2015 (144)
57	EVA_UK10K_TWINSUK	ss1642573700	Apr 01, 2015 (144)
58	EVA_SVP	ss1712312222	Apr 01, 2015 (144)
59	ILLUMINA	ss1751868241	Sep 08, 2015 (146)
60	HAMMER_LAB	ss1793929969	Sep 08, 2015 (146)
61	WEILL_CORNELL_DGM	ss1918075209	Feb 12, 2016 (147)
62	ILLUMINA	ss1958243136	Feb 12, 2016 (147)
63	GENOMED	ss1966687690	Jul 19, 2016 (147)
64	JJLAB	ss2019551125	Sep 14, 2016 (149)
65	USC_VALOUEV	ss2147549433	Dec 20, 2016 (150)
66	HUMAN_LONGEVITY	ss2160174700	Dec 20, 2016 (150)
67	ILLUMINA	ss2632479545	Nov 08, 2017 (151)
68	GRF	ss2697449950	Nov 08, 2017 (151)
69	GNOMAD	ss2751835530	Nov 08, 2017 (151)
70	SWEGEN	ss2986335478	Nov 08, 2017 (151)
71	ILLUMINA	ss3021056293	Nov 08, 2017 (151)
72	BIOINF_KMB_FNS_UNIBA	ss3023538854	Nov 08, 2017 (151)
73	CSHL	ss3343327071	Nov 08, 2017 (151)
74	ILLUMINA	ss3625526038	Oct 11, 2018 (152)
75	ILLUMINA	ss3626030117	Oct 11, 2018 (152)
76	ILLUMINA	ss3630517778	Oct 11, 2018 (152)
77	ILLUMINA	ss3632881343	Oct 11, 2018 (152)
78	ILLUMINA	ss3633575217	Oct 11, 2018 (152)
79	ILLUMINA	ss3634307857	Oct 11, 2018 (152)
80	ILLUMINA	ss3635269321	Oct 11, 2018 (152)
81	ILLUMINA	ss3635984015	Oct 11, 2018 (152)
82	ILLUMINA	ss3637019695	Oct 11, 2018 (152)
83	ILLUMINA	ss3637738435	Oct 11, 2018 (152)
84	ILLUMINA	ss3638890319	Oct 11, 2018 (152)
85	ILLUMINA	ss3639442061	Oct 11, 2018 (152)
86	ILLUMINA	ss3640015221	Oct 11, 2018 (152)
87	EGCUT_WGS	ss3654421947	Jul 12, 2019 (153)
88	EVA_DECODE	ss3686199783	Jul 12, 2019 (153)
89	ACPOP	ss3726805935	Jul 12, 2019 (153)
90	EVA	ss3745849749	Jul 12, 2019 (153)
91	PAGE_CC	ss3770786774	Jul 12, 2019 (153)
92	PACBIO	ss3783328778	Jul 12, 2019 (153)
93	PACBIO	ss3789002281	Jul 12, 2019 (153)
94	PACBIO	ss3793874995	Jul 12, 2019 (153)
95	KHV_HUMAN_GENOMES	ss3798871021	Jul 12, 2019 (153)
96	EVA	ss3826031320	Apr 25, 2020 (154)
97	EVA	ss3836402895	Apr 25, 2020 (154)
98	EVA	ss3841806987	Apr 25, 2020 (154)
99	HGDP	ss3847324938	Apr 25, 2020 (154)
100	SGDP_PRJ	ss3848244986	Apr 25, 2020 (154)
101	KRGDB	ss3893135839	Apr 25, 2020 (154)
102	EVA	ss3984452425	Apr 25, 2021 (155)
103	EVA	ss3984779416	Apr 25, 2021 (155)
104	TOPMED	ss4439803928	Apr 25, 2021 (155)
105	TOMMO_GENOMICS	ss5142575590	Apr 25, 2021 (155)
106	1000G_HIGH_COVERAGE	ss5241250560	Oct 12, 2022 (156)
107	GENOGRAPHIC	ss5314461759	Oct 12, 2022 (156)
108	EVA	ss5314594169	Oct 12, 2022 (156)
109	EVA	ss5316872389	Oct 12, 2022 (156)
110	HUGCELL_USP	ss5442434743	Oct 12, 2022 (156)
111	1000G_HIGH_COVERAGE	ss5513040030	Oct 12, 2022 (156)
112	SANFORD_IMAGENETICS	ss5624196978	Oct 12, 2022 (156)
113	SANFORD_IMAGENETICS	ss5624965653	Oct 12, 2022 (156)
114	TOMMO_GENOMICS	ss5666914603	Oct 12, 2022 (156)
115	EVA	ss5799475531	Oct 12, 2022 (156)
116	YY_MCH	ss5800343740	Oct 12, 2022 (156)
117	EVA	ss5831564623	Oct 12, 2022 (156)
118	EVA	ss5847152961	Oct 12, 2022 (156)
119	EVA	ss5847526266	Oct 12, 2022 (156)
120	EVA	ss5848790834	Oct 12, 2022 (156)
121	EVA	ss5907111128	Oct 12, 2022 (156)
122	EVA	ss5936784535	Oct 12, 2022 (156)
123	EVA	ss5979263604	Oct 12, 2022 (156)
124	1000Genomes	NC_000001.10 - 14124098	Oct 11, 2018 (152)
125	1000Genomes_30x	NC_000001.11 - 13797603	Oct 12, 2022 (156)
126	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 14124098	Oct 11, 2018 (152)
127	Genome-wide autozygosity in Daghestan	NC_000001.9 - 13996685	Apr 25, 2020 (154)
128	Genetic variation in the Estonian population	NC_000001.10 - 14124098	Oct 11, 2018 (152)
129	Genographic Project	NC_000001.11 - 13797603	Oct 12, 2022 (156)
130	The Danish reference pan genome	NC_000001.10 - 14124098	Apr 25, 2020 (154)
131	gnomAD - Genomes	NC_000001.11 - 13797603	Apr 25, 2021 (155)
132	Genome of the Netherlands Release 5	NC_000001.10 - 14124098	Apr 25, 2020 (154)
133	HGDP-CEPH-db Supplement 1	NC_000001.9 - 13996685	Apr 25, 2020 (154)
134	HapMap	NC_000001.11 - 13797603	Apr 25, 2020 (154)
135	KOREAN population from KRGDB	NC_000001.10 - 14124098	Apr 25, 2020 (154)
136	Northern Sweden	NC_000001.10 - 14124098	Jul 12, 2019 (153)
137	The PAGE Study	NC_000001.11 - 13797603	Jul 12, 2019 (153)
138	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000001.10 - 14124098	Apr 25, 2021 (155)
139	CNV burdens in cranial meningiomas	NC_000001.10 - 14124098	Apr 25, 2021 (155)
140	Qatari	NC_000001.10 - 14124098	Apr 25, 2020 (154)
141	SGDP_PRJ	NC_000001.10 - 14124098	Apr 25, 2020 (154)
142	Siberian	NC_000001.10 - 14124098	Apr 25, 2020 (154)
143	8.3KJPN	NC_000001.10 - 14124098	Apr 25, 2021 (155)
144	14KJPN	NC_000001.11 - 13797603	Oct 12, 2022 (156)
145	TopMed	NC_000001.11 - 13797603	Apr 25, 2021 (155)
146	UK 10K study - Twins	NC_000001.10 - 14124098	Oct 11, 2018 (152)
147	ALFA	NC_000001.11 - 13797603	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).

Associated ID	History Updated (Build)
rs57926778	May 24, 2008 (130)
rs386563504	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss77785066, ss80992744, ss86127256, ss3638890319, ss3639442061	NC_000001.8:13869403:G:A	NC_000001.11:13797602:G:A	(self)
1414, 2830, ss108000512, ss110075293, ss118506599, ss163089938, ss163848632, ss198041274, ss252926282, ss275721201, ss290625978, ss480504744, ss825456546, ss1397239935, ss1584229846, ss1712312222, ss3847324938	NC_000001.9:13996684:G:A	NC_000001.11:13797602:G:A	(self)
429121, 221482, 160195, 1396173, 95661, 313233, 90800, 5343, 1727, 117139, 261966, 65787, 544897, 221482, ss218244069, ss230432163, ss238146610, ss480519056, ss481326101, ss485049827, ss537068712, ss553813501, ss647588172, ss778489677, ss782971132, ss783932658, ss832227463, ss832888242, ss833945665, ss974872609, ss1067680740, ss1289750816, ss1425717992, ss1573896830, ss1599579667, ss1642573700, ss1751868241, ss1793929969, ss1918075209, ss1958243136, ss1966687690, ss2019551125, ss2147549433, ss2632479545, ss2697449950, ss2751835530, ss2986335478, ss3021056293, ss3343327071, ss3625526038, ss3626030117, ss3630517778, ss3632881343, ss3633575217, ss3634307857, ss3635269321, ss3635984015, ss3637019695, ss3637738435, ss3640015221, ss3654421947, ss3726805935, ss3745849749, ss3783328778, ss3789002281, ss3793874995, ss3826031320, ss3836402895, ss3848244986, ss3893135839, ss3984452425, ss3984779416, ss5142575590, ss5314594169, ss5316872389, ss5624196978, ss5624965653, ss5799475531, ss5831564623, ss5847152961, ss5847526266, ss5936784535, ss5979263604	NC_000001.10:14124097:G:A	NC_000001.11:13797602:G:A	(self)
565965, 88988, 3025909, 16061, 8243, 751707, 3410263, 10599135978, ss2160174700, ss3023538854, ss3686199783, ss3770786774, ss3798871021, ss3841806987, ss4439803928, ss5241250560, ss5314461759, ss5442434743, ss5513040030, ss5666914603, ss5800343740, ss5848790834, ss5907111128	NC_000001.11:13797602:G:A	NC_000001.11:13797602:G:A	(self)
ss3219541, ss44104788, ss66806603, ss67241471, ss67638193, ss70719820, ss71288123, ss75833354, ss79126028, ss84019346, ss105122122, ss121982350, ss153898597, ss159376439, ss160527932, ss161166814, ss171154318, ss173245928	NT_004610.19:804185:G:A	NC_000001.11:13797602:G:A	(self)
ss16398635	NT_004873.15:501262:G:A	NC_000001.11:13797602:G:A	(self)
313233, ss3893135839	NC_000001.10:14124097:G:C	NC_000001.11:13797602:G:C	(self)
88988, 10599135978, ss5314461759	NC_000001.11:13797602:G:T	NC_000001.11:13797602:G: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 rs2281170

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
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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

rs2281170