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dbSNP Short Genetic Variations

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.

rs2297256

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr21:39186495 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.468986 (124136/264690, TOPMED)
A=0.449241 (112365/250122, ALFA)
A=0.473254 (66212/139908, GnomAD) (+ 18 more)
A=0.48093 (37838/78676, PAGE_STUDY)
A=0.42781 (12089/28258, 14KJPN)
A=0.42709 (7158/16760, 8.3KJPN)
A=0.4850 (3106/6404, 1000G_30x)
A=0.4820 (2414/5008, 1000G)
G=0.4730 (2119/4480, Estonian)
A=0.4364 (1682/3854, ALSPAC)
A=0.4307 (1597/3708, TWINSUK)
A=0.4423 (1296/2930, KOREAN)
A=0.4464 (842/1886, HapMap)
A=0.455 (454/998, GoNL)
A=0.470 (371/790, PRJEB37584)
A=0.442 (265/600, NorthernSweden)
G=0.313 (129/412, SGDP_PRJ)
G=0.477 (103/216, Qatari)
A=0.440 (95/216, Vietnamese)
G=0.36 (15/42, Siberian)
A=0.30 (12/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
BRWD1 : 3 Prime UTR 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 255156 G=0.550687 A=0.449313, T=0.000000
European Sub 224144 G=0.553599 A=0.446401, T=0.000000
African Sub 7788 G=0.5891 A=0.4109, T=0.0000
African Others Sub 284 G=0.570 A=0.430, T=0.000
African American Sub 7504 G=0.5898 A=0.4102, T=0.0000
Asian Sub 3840 G=0.5510 A=0.4490, T=0.0000
East Asian Sub 3094 G=0.5575 A=0.4425, T=0.0000
Other Asian Sub 746 G=0.524 A=0.476, T=0.000
Latin American 1 Sub 1082 G=0.5573 A=0.4427, T=0.0000
Latin American 2 Sub 8320 G=0.4458 A=0.5542, T=0.0000
South Asian Sub 306 G=0.611 A=0.389, T=0.000
Other Sub 9676 G=0.5397 A=0.4603, T=0.0000


Help

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 G=0.531014 A=0.468986
Allele Frequency Aggregator Total Global 250122 G=0.550759 A=0.449241, T=0.000000
Allele Frequency Aggregator European Sub 221050 G=0.553553 A=0.446447, T=0.000000
Allele Frequency Aggregator Other Sub 8876 G=0.5408 A=0.4592, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 8320 G=0.4458 A=0.5542, T=0.0000
Allele Frequency Aggregator African Sub 6648 G=0.5985 A=0.4015, T=0.0000
Allele Frequency Aggregator Asian Sub 3840 G=0.5510 A=0.4490, T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 1082 G=0.5573 A=0.4427, T=0.0000
Allele Frequency Aggregator South Asian Sub 306 G=0.611 A=0.389, T=0.000
gnomAD - Genomes Global Study-wide 139908 G=0.526746 A=0.473254
gnomAD - Genomes European Sub 75786 G=0.53118 A=0.46882
gnomAD - Genomes African Sub 41916 G=0.53531 A=0.46469
gnomAD - Genomes American Sub 13630 G=0.46222 A=0.53778
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.5412 A=0.4588
gnomAD - Genomes East Asian Sub 3106 G=0.5766 A=0.4234
gnomAD - Genomes Other Sub 2148 G=0.5182 A=0.4818
The PAGE Study Global Study-wide 78676 G=0.51907 A=0.48093
The PAGE Study AfricanAmerican Sub 32506 G=0.53544 A=0.46456
The PAGE Study Mexican Sub 10806 G=0.44466 A=0.55534
The PAGE Study Asian Sub 8316 G=0.5788 A=0.4212
The PAGE Study PuertoRican Sub 7916 G=0.4798 A=0.5202
The PAGE Study NativeHawaiian Sub 4534 G=0.6367 A=0.3633
The PAGE Study Cuban Sub 4228 G=0.5229 A=0.4771
The PAGE Study Dominican Sub 3826 G=0.5256 A=0.4744
The PAGE Study CentralAmerican Sub 2448 G=0.3950 A=0.6050
The PAGE Study SouthAmerican Sub 1982 G=0.4349 A=0.5651
The PAGE Study NativeAmerican Sub 1258 G=0.5286 A=0.4714
The PAGE Study SouthAsian Sub 856 G=0.484 A=0.516
14KJPN JAPANESE Study-wide 28258 G=0.57219 A=0.42781
8.3KJPN JAPANESE Study-wide 16760 G=0.57291 A=0.42709
1000Genomes_30x Global Study-wide 6404 G=0.5150 A=0.4850
1000Genomes_30x African Sub 1786 G=0.5582 A=0.4418
1000Genomes_30x Europe Sub 1266 G=0.5166 A=0.4834
1000Genomes_30x South Asian Sub 1202 G=0.4784 A=0.5216
1000Genomes_30x East Asian Sub 1170 G=0.5684 A=0.4316
1000Genomes_30x American Sub 980 G=0.415 A=0.585
1000Genomes Global Study-wide 5008 G=0.5180 A=0.4820
1000Genomes African Sub 1322 G=0.5560 A=0.4440
1000Genomes East Asian Sub 1008 G=0.5615 A=0.4385
1000Genomes Europe Sub 1006 G=0.5159 A=0.4841
1000Genomes South Asian Sub 978 G=0.483 A=0.517
1000Genomes American Sub 694 G=0.435 A=0.565
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.4730 A=0.5270
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.5636 A=0.4364
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.5693 A=0.4307
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.5577 A=0.4423
HapMap Global Study-wide 1886 G=0.5536 A=0.4464
HapMap American Sub 770 G=0.521 A=0.479
HapMap African Sub 686 G=0.587 A=0.413
HapMap Asian Sub 254 G=0.587 A=0.413
HapMap Europe Sub 176 G=0.517 A=0.483
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.545 A=0.455
CNV burdens in cranial meningiomas Global Study-wide 790 G=0.530 A=0.470
CNV burdens in cranial meningiomas CRM Sub 790 G=0.530 A=0.470
Northern Sweden ACPOP Study-wide 600 G=0.558 A=0.442
SGDP_PRJ Global Study-wide 412 G=0.313 A=0.687
Qatari Global Study-wide 216 G=0.477 A=0.523
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.560 A=0.440
Siberian Global Study-wide 42 G=0.36 A=0.64
The Danish reference pan genome Danish Study-wide 40 G=0.70 A=0.30
Help

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.39186495G>A
GRCh38.p14 chr 21 NC_000021.9:g.39186495G>T
GRCh37.p13 chr 21 NC_000021.8:g.40558421G>A
GRCh37.p13 chr 21 NC_000021.8:g.40558421G>T
BRWD1 RefSeqGene NG_029919.2:g.132292C>T
BRWD1 RefSeqGene NG_029919.2:g.132292C>A
Gene: BRWD1, bromodomain and WD repeat domain containing 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
BRWD1 transcript variant 2 NM_033656.4:c.*9764= N/A 3 Prime UTR Variant
BRWD1 transcript variant 1 NM_018963.5:c.*531= N/A 3 Prime UTR Variant
BRWD1 transcript variant 3 NM_001007246.3:c. N/A Genic Downstream Transcript Variant
BRWD1 transcript variant X3 XM_011529612.2:c.*531= N/A 3 Prime UTR Variant
BRWD1 transcript variant X1 XM_011529611.2:c.*531= N/A 3 Prime UTR Variant
BRWD1 transcript variant X2 XM_017028373.2:c.*531= N/A 3 Prime UTR Variant
BRWD1 transcript variant X4 XM_011529613.2:c.*531= N/A 3 Prime UTR Variant
BRWD1 transcript variant X5 XM_017028375.2:c. N/A Genic Downstream Transcript Variant
BRWD1 transcript variant X6 XM_047440841.1:c. N/A Genic Downstream Transcript Variant
Help

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
Help

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 T
GRCh38.p14 chr 21 NC_000021.9:g.39186495= NC_000021.9:g.39186495G>A NC_000021.9:g.39186495G>T
GRCh37.p13 chr 21 NC_000021.8:g.40558421= NC_000021.8:g.40558421G>A NC_000021.8:g.40558421G>T
BRWD1 RefSeqGene NG_029919.2:g.132292= NG_029919.2:g.132292C>T NG_029919.2:g.132292C>A
BRWD1 transcript variant 1 NM_018963.5:c.*531= NM_018963.5:c.*531C>T NM_018963.5:c.*531C>A
BRWD1 transcript variant 1 NM_018963.4:c.*531= NM_018963.4:c.*531C>T NM_018963.4:c.*531C>A
BRWD1 transcript variant 2 NM_033656.4:c.*9764= NM_033656.4:c.*9764C>T NM_033656.4:c.*9764C>A
BRWD1 transcript variant 2 NM_033656.3:c.*9764= NM_033656.3:c.*9764C>T NM_033656.3:c.*9764C>A
BRWD1 transcript variant X2 XM_017028373.2:c.*531= XM_017028373.2:c.*531C>T XM_017028373.2:c.*531C>A
BRWD1 transcript variant X2 XM_017028373.1:c.*531= XM_017028373.1:c.*531C>T XM_017028373.1:c.*531C>A
BRWD1 transcript variant X1 XM_011529611.2:c.*531= XM_011529611.2:c.*531C>T XM_011529611.2:c.*531C>A
BRWD1 transcript variant X1 XM_011529611.1:c.*531= XM_011529611.1:c.*531C>T XM_011529611.1:c.*531C>A
BRWD1 transcript variant X3 XM_011529612.2:c.*531= XM_011529612.2:c.*531C>T XM_011529612.2:c.*531C>A
BRWD1 transcript variant X2 XM_011529612.1:c.*531= XM_011529612.1:c.*531C>T XM_011529612.1:c.*531C>A
BRWD1 transcript variant X4 XM_011529613.2:c.*531= XM_011529613.2:c.*531C>T XM_011529613.2:c.*531C>A
BRWD1 transcript variant X4 XM_011529613.1:c.*531= XM_011529613.1:c.*531C>T XM_011529613.1:c.*531C>A
Help

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#.

131 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3241640 Sep 28, 2001 (100)
2 CSHL-HAPMAP ss16909552 Feb 27, 2004 (120)
3 SSAHASNP ss21826947 Apr 05, 2004 (121)
4 PERLEGEN ss38338800 May 24, 2005 (125)
5 ABI ss44269427 Mar 13, 2006 (126)
6 ILLUMINA ss65733696 Oct 14, 2006 (127)
7 AFFY ss66371794 Nov 30, 2006 (127)
8 ILLUMINA ss74964294 Dec 06, 2007 (129)
9 AFFY ss76098742 Dec 06, 2007 (129)
10 HGSV ss81085087 Dec 15, 2007 (130)
11 KRIBB_YJKIM ss81756222 Dec 16, 2007 (130)
12 BCMHGSC_JDW ss91840982 Mar 24, 2008 (129)
13 HUMANGENOME_JCVI ss96169629 Feb 04, 2009 (130)
14 BGI ss103825931 Dec 01, 2009 (131)
15 1000GENOMES ss112479019 Jan 25, 2009 (130)
16 ENSEMBL ss135602256 Dec 01, 2009 (131)
17 ENSEMBL ss138318124 Dec 01, 2009 (131)
18 GMI ss156915789 Dec 01, 2009 (131)
19 ILLUMINA ss160532379 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss168043812 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss172039793 Jul 04, 2010 (132)
22 AFFY ss172499524 Jul 04, 2010 (132)
23 ILLUMINA ss173268900 Jul 04, 2010 (132)
24 BUSHMAN ss204019703 Jul 04, 2010 (132)
25 BCM-HGSC-SUB ss208796391 Jul 04, 2010 (132)
26 1000GENOMES ss212087205 Jul 14, 2010 (132)
27 1000GENOMES ss228569420 Jul 14, 2010 (132)
28 1000GENOMES ss237985690 Jul 15, 2010 (132)
29 1000GENOMES ss244123861 Jul 15, 2010 (132)
30 GMI ss283545396 May 04, 2012 (137)
31 PJP ss292712462 May 09, 2011 (134)
32 ILLUMINA ss480518807 May 04, 2012 (137)
33 ILLUMINA ss480533225 May 04, 2012 (137)
34 ILLUMINA ss481343978 Sep 08, 2015 (146)
35 ILLUMINA ss485056751 May 04, 2012 (137)
36 ILLUMINA ss537073380 Sep 08, 2015 (146)
37 TISHKOFF ss566501717 Apr 25, 2013 (138)
38 SSMP ss662412245 Apr 25, 2013 (138)
39 ILLUMINA ss778491082 Sep 08, 2015 (146)
40 ILLUMINA ss782974591 Sep 08, 2015 (146)
41 ILLUMINA ss783935867 Sep 08, 2015 (146)
42 ILLUMINA ss832230971 Sep 08, 2015 (146)
43 ILLUMINA ss833947086 Sep 08, 2015 (146)
44 EVA-GONL ss995129060 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1082507386 Aug 21, 2014 (142)
46 1000GENOMES ss1366330211 Aug 21, 2014 (142)
47 DDI ss1429187188 Apr 01, 2015 (144)
48 EVA_GENOME_DK ss1579666897 Apr 01, 2015 (144)
49 EVA_UK10K_ALSPAC ss1639584509 Apr 01, 2015 (144)
50 EVA_UK10K_TWINSUK ss1682578542 Apr 01, 2015 (144)
51 EVA_DECODE ss1699200027 Apr 01, 2015 (144)
52 EVA_SVP ss1713724215 Apr 01, 2015 (144)
53 ILLUMINA ss1752408407 Sep 08, 2015 (146)
54 HAMMER_LAB ss1809691319 Sep 08, 2015 (146)
55 WEILL_CORNELL_DGM ss1938679014 Feb 12, 2016 (147)
56 ILLUMINA ss1946567114 Feb 12, 2016 (147)
57 ILLUMINA ss1959954055 Feb 12, 2016 (147)
58 GENOMED ss1969227723 Jul 19, 2016 (147)
59 JJLAB ss2030111826 Sep 14, 2016 (149)
60 USC_VALOUEV ss2158716883 Dec 20, 2016 (150)
61 HUMAN_LONGEVITY ss2245863129 Dec 20, 2016 (150)
62 SYSTEMSBIOZJU ss2629555338 Nov 08, 2017 (151)
63 ILLUMINA ss2633850119 Nov 08, 2017 (151)
64 GRF ss2704447964 Nov 08, 2017 (151)
65 ILLUMINA ss2710950559 Nov 08, 2017 (151)
66 GNOMAD ss2971916000 Nov 08, 2017 (151)
67 SWEGEN ss3018909081 Nov 08, 2017 (151)
68 ILLUMINA ss3022160166 Nov 08, 2017 (151)
69 BIOINF_KMB_FNS_UNIBA ss3028894974 Nov 08, 2017 (151)
70 CSHL ss3352723500 Nov 08, 2017 (151)
71 ILLUMINA ss3625796947 Oct 12, 2018 (152)
72 ILLUMINA ss3628483291 Oct 12, 2018 (152)
73 ILLUMINA ss3631803624 Oct 12, 2018 (152)
74 ILLUMINA ss3633265561 Oct 12, 2018 (152)
75 ILLUMINA ss3633980541 Oct 12, 2018 (152)
76 ILLUMINA ss3634855287 Oct 12, 2018 (152)
77 ILLUMINA ss3635665271 Oct 12, 2018 (152)
78 ILLUMINA ss3636551258 Oct 12, 2018 (152)
79 ILLUMINA ss3637417437 Oct 12, 2018 (152)
80 ILLUMINA ss3638368661 Oct 12, 2018 (152)
81 ILLUMINA ss3640562587 Oct 12, 2018 (152)
82 ILLUMINA ss3641134415 Oct 12, 2018 (152)
83 ILLUMINA ss3641430742 Oct 12, 2018 (152)
84 ILLUMINA ss3643329552 Oct 12, 2018 (152)
85 ILLUMINA ss3644792864 Oct 12, 2018 (152)
86 OMUKHERJEE_ADBS ss3646556602 Oct 12, 2018 (152)
87 URBANLAB ss3651117612 Oct 12, 2018 (152)
88 ILLUMINA ss3652620245 Oct 12, 2018 (152)
89 EGCUT_WGS ss3685486409 Jul 13, 2019 (153)
90 EVA_DECODE ss3707752727 Jul 13, 2019 (153)
91 ILLUMINA ss3725948646 Jul 13, 2019 (153)
92 ACPOP ss3743741218 Jul 13, 2019 (153)
93 ILLUMINA ss3744203566 Jul 13, 2019 (153)
94 ILLUMINA ss3745155144 Jul 13, 2019 (153)
95 EVA ss3759120612 Jul 13, 2019 (153)
96 PAGE_CC ss3772074536 Jul 13, 2019 (153)
97 ILLUMINA ss3772651193 Jul 13, 2019 (153)
98 PACBIO ss3788765481 Jul 13, 2019 (153)
99 PACBIO ss3793639254 Jul 13, 2019 (153)
100 PACBIO ss3798525502 Jul 13, 2019 (153)
101 KHV_HUMAN_GENOMES ss3822286720 Jul 13, 2019 (153)
102 EVA ss3825961041 Apr 27, 2020 (154)
103 EVA ss3835879494 Apr 27, 2020 (154)
104 EVA ss3841567127 Apr 27, 2020 (154)
105 EVA ss3847080606 Apr 27, 2020 (154)
106 SGDP_PRJ ss3890024205 Apr 27, 2020 (154)
107 KRGDB ss3940368893 Apr 27, 2020 (154)
108 FSA-LAB ss3984224962 Apr 26, 2021 (155)
109 EVA ss3984756546 Apr 26, 2021 (155)
110 EVA ss3986085849 Apr 26, 2021 (155)
111 TOPMED ss5101999362 Apr 26, 2021 (155)
112 TOMMO_GENOMICS ss5231580005 Apr 26, 2021 (155)
113 EVA ss5237613074 Apr 26, 2021 (155)
114 1000G_HIGH_COVERAGE ss5310255528 Oct 16, 2022 (156)
115 EVA ss5316038962 Oct 16, 2022 (156)
116 EVA ss5439958109 Oct 16, 2022 (156)
117 HUGCELL_USP ss5502299870 Oct 16, 2022 (156)
118 EVA ss5512326606 Oct 16, 2022 (156)
119 1000G_HIGH_COVERAGE ss5617416584 Oct 16, 2022 (156)
120 SANFORD_IMAGENETICS ss5624496877 Oct 16, 2022 (156)
121 SANFORD_IMAGENETICS ss5664035565 Oct 16, 2022 (156)
122 TOMMO_GENOMICS ss5792106191 Oct 16, 2022 (156)
123 EVA ss5800034440 Oct 16, 2022 (156)
124 YY_MCH ss5818453251 Oct 16, 2022 (156)
125 EVA ss5839055840 Oct 16, 2022 (156)
126 EVA ss5847513885 Oct 16, 2022 (156)
127 EVA ss5847934672 Oct 16, 2022 (156)
128 EVA ss5853309727 Oct 16, 2022 (156)
129 EVA ss5892400444 Oct 16, 2022 (156)
130 EVA ss5958932550 Oct 16, 2022 (156)
131 EVA ss5979629509 Oct 16, 2022 (156)
132 1000Genomes NC_000021.8 - 40558421 Oct 12, 2018 (152)
133 1000Genomes_30x NC_000021.9 - 39186495 Oct 16, 2022 (156)
134 The Avon Longitudinal Study of Parents and Children NC_000021.8 - 40558421 Oct 12, 2018 (152)
135 Genetic variation in the Estonian population NC_000021.8 - 40558421 Oct 12, 2018 (152)
136 The Danish reference pan genome NC_000021.8 - 40558421 Apr 27, 2020 (154)
137 gnomAD - Genomes NC_000021.9 - 39186495 Apr 26, 2021 (155)
138 Genome of the Netherlands Release 5 NC_000021.8 - 40558421 Apr 27, 2020 (154)
139 HapMap NC_000021.9 - 39186495 Apr 27, 2020 (154)
140 KOREAN population from KRGDB NC_000021.8 - 40558421 Apr 27, 2020 (154)
141 Northern Sweden NC_000021.8 - 40558421 Jul 13, 2019 (153)
142 The PAGE Study NC_000021.9 - 39186495 Jul 13, 2019 (153)
143 CNV burdens in cranial meningiomas NC_000021.8 - 40558421 Apr 26, 2021 (155)
144 Qatari NC_000021.8 - 40558421 Apr 27, 2020 (154)
145 SGDP_PRJ NC_000021.8 - 40558421 Apr 27, 2020 (154)
146 Siberian NC_000021.8 - 40558421 Apr 27, 2020 (154)
147 8.3KJPN NC_000021.8 - 40558421 Apr 26, 2021 (155)
148 14KJPN NC_000021.9 - 39186495 Oct 16, 2022 (156)
149 TopMed NC_000021.9 - 39186495 Apr 26, 2021 (155)
150 UK 10K study - Twins NC_000021.8 - 40558421 Oct 12, 2018 (152)
151 A Vietnamese Genetic Variation Database NC_000021.8 - 40558421 Jul 13, 2019 (153)
152 ALFA NC_000021.9 - 39186495 Apr 26, 2021 (155)
Help

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)
rs58322087 May 24, 2008 (130)
rs61118334 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss81085087, ss91840982, ss112479019, ss168043812, ss172039793, ss204019703, ss208796391, ss212087205, ss283545396, ss292712462, ss480518807, ss1699200027, ss1713724215, ss3643329552 NC_000021.7:39480290:G:A NC_000021.9:39186494:G:A (self)
79851713, 44194563, 31224657, 5831836, 19686660, 47546287, 17026083, 306125, 20720936, 42041185, 11233237, 89549312, 44194563, 9751162, ss228569420, ss237985690, ss244123861, ss480533225, ss481343978, ss485056751, ss537073380, ss566501717, ss662412245, ss778491082, ss782974591, ss783935867, ss832230971, ss833947086, ss995129060, ss1082507386, ss1366330211, ss1429187188, ss1579666897, ss1639584509, ss1682578542, ss1752408407, ss1809691319, ss1938679014, ss1946567114, ss1959954055, ss1969227723, ss2030111826, ss2158716883, ss2629555338, ss2633850119, ss2704447964, ss2710950559, ss2971916000, ss3018909081, ss3022160166, ss3352723500, ss3625796947, ss3628483291, ss3631803624, ss3633265561, ss3633980541, ss3634855287, ss3635665271, ss3636551258, ss3637417437, ss3638368661, ss3640562587, ss3641134415, ss3641430742, ss3644792864, ss3646556602, ss3652620245, ss3685486409, ss3743741218, ss3744203566, ss3745155144, ss3759120612, ss3772651193, ss3788765481, ss3793639254, ss3798525502, ss3825961041, ss3835879494, ss3841567127, ss3890024205, ss3940368893, ss3984224962, ss3984756546, ss3986085849, ss5231580005, ss5237613074, ss5316038962, ss5439958109, ss5512326606, ss5624496877, ss5664035565, ss5800034440, ss5839055840, ss5847513885, ss5847934672, ss5958932550, ss5979629509 NC_000021.8:40558420:G:A NC_000021.9:39186494:G:A (self)
104942519, 563499854, 2211665, 1296005, 125943295, 377108308, 10925828392, ss2245863129, ss3028894974, ss3651117612, ss3707752727, ss3725948646, ss3772074536, ss3822286720, ss3847080606, ss5101999362, ss5310255528, ss5502299870, ss5617416584, ss5792106191, ss5818453251, ss5853309727, ss5892400444 NC_000021.9:39186494:G:A NC_000021.9:39186494:G:A (self)
ss16909552, ss21826947 NT_011512.9:26218816:G:A NC_000021.9:39186494:G:A (self)
ss3241640, ss38338800, ss44269427, ss65733696, ss66371794, ss74964294, ss76098742, ss81756222, ss96169629, ss103825931, ss135602256, ss138318124, ss156915789, ss160532379, ss172499524, ss173268900 NT_011512.11:26220291:G:A NC_000021.9:39186494:G:A (self)
10925828392 NC_000021.9:39186494:G:T NC_000021.9:39186494:G:T (self)
Help

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

No publications for rs2297256

Help

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.

Software version is: 2.0.1.post761+d5e8e07