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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.

rs2760320

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:3632268 (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
C=0.067290 (8159/121252, ExAC)
C=0.055107 (6242/113270, ALFA)
C=0.06482 (5101/78696, PAGE_STUDY) (+ 19 more)
C=0.04982 (648/13006, GO-ESP)
C=0.0511 (327/6404, 1000G_30x)
C=0.0491 (246/5008, 1000G)
C=0.0752 (337/4480, Estonian)
C=0.0581 (224/3854, ALSPAC)
C=0.0591 (219/3708, TWINSUK)
C=0.0007 (2/2922, KOREAN)
C=0.0596 (102/1712, HapMap)
C=0.050 (50/998, GoNL)
C=0.001 (1/792, PRJEB37584)
C=0.088 (53/600, NorthernSweden)
C=0.043 (23/534, MGP)
C=0.056 (17/304, FINRISK)
C=0.056 (12/216, Qatari)
C=0.005 (1/216, Vietnamese)
G=0.47 (30/64, SGDP_PRJ)
C=0.10 (4/40, GENOME_DK)
G=0.5 (2/4, Siberian)
C=0.5 (2/4, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
WRAP73 : Missense 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 113270 G=0.944893 A=0.000000, C=0.055107, T=0.000000
European Sub 95920 G=0.94173 A=0.00000, C=0.05827, T=0.00000
African Sub 4232 G=0.9853 A=0.0000, C=0.0147, T=0.0000
African Others Sub 172 G=0.988 A=0.000, C=0.012, T=0.000
African American Sub 4060 G=0.9852 A=0.0000, C=0.0148, T=0.0000
Asian Sub 3328 G=0.9994 A=0.0000, C=0.0006, T=0.0000
East Asian Sub 2676 G=0.9993 A=0.0000, C=0.0007, T=0.0000
Other Asian Sub 652 G=1.000 A=0.000, C=0.000, T=0.000
Latin American 1 Sub 764 G=0.957 A=0.000, C=0.043, T=0.000
Latin American 2 Sub 758 G=0.943 A=0.000, C=0.057, T=0.000
South Asian Sub 258 G=0.973 A=0.000, C=0.027, T=0.000
Other Sub 8010 G=0.9368 A=0.0000, C=0.0632, 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
ExAC Global Study-wide 121252 G=0.932710 C=0.067290
ExAC Europe Sub 73244 G=0.93728 C=0.06272
ExAC Asian Sub 25158 G=0.96224 C=0.03776
ExAC American Sub 11552 G=0.80601 C=0.19399
ExAC African Sub 10392 G=0.96988 C=0.03012
ExAC Other Sub 906 G=0.933 C=0.067
Allele Frequency Aggregator Total Global 113270 G=0.944893 A=0.000000, C=0.055107, T=0.000000
Allele Frequency Aggregator European Sub 95920 G=0.94173 A=0.00000, C=0.05827, T=0.00000
Allele Frequency Aggregator Other Sub 8010 G=0.9368 A=0.0000, C=0.0632, T=0.0000
Allele Frequency Aggregator African Sub 4232 G=0.9853 A=0.0000, C=0.0147, T=0.0000
Allele Frequency Aggregator Asian Sub 3328 G=0.9994 A=0.0000, C=0.0006, T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 764 G=0.957 A=0.000, C=0.043, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 758 G=0.943 A=0.000, C=0.057, T=0.000
Allele Frequency Aggregator South Asian Sub 258 G=0.973 A=0.000, C=0.027, T=0.000
The PAGE Study Global Study-wide 78696 G=0.93518 C=0.06482
The PAGE Study AfricanAmerican Sub 32512 G=0.96549 C=0.03451
The PAGE Study Mexican Sub 10810 G=0.83293 C=0.16707
The PAGE Study Asian Sub 8318 G=0.9989 C=0.0011
The PAGE Study PuertoRican Sub 7918 G=0.9179 C=0.0821
The PAGE Study NativeHawaiian Sub 4534 G=0.9859 C=0.0141
The PAGE Study Cuban Sub 4228 G=0.9376 C=0.0624
The PAGE Study Dominican Sub 3828 G=0.9472 C=0.0528
The PAGE Study CentralAmerican Sub 2450 G=0.8261 C=0.1739
The PAGE Study SouthAmerican Sub 1982 G=0.8108 C=0.1892
The PAGE Study NativeAmerican Sub 1260 G=0.9032 C=0.0968
The PAGE Study SouthAsian Sub 856 G=0.929 C=0.071
GO Exome Sequencing Project Global Study-wide 13006 G=0.95018 C=0.04982
GO Exome Sequencing Project European American Sub 8600 G=0.9421 C=0.0579
GO Exome Sequencing Project African American Sub 4406 G=0.9660 C=0.0340
1000Genomes_30x Global Study-wide 6404 G=0.9489 C=0.0511
1000Genomes_30x African Sub 1786 G=0.9681 C=0.0319
1000Genomes_30x Europe Sub 1266 G=0.9431 C=0.0569
1000Genomes_30x South Asian Sub 1202 G=0.9534 C=0.0466
1000Genomes_30x East Asian Sub 1170 G=0.9983 C=0.0017
1000Genomes_30x American Sub 980 G=0.857 C=0.143
1000Genomes Global Study-wide 5008 G=0.9509 C=0.0491
1000Genomes African Sub 1322 G=0.9652 C=0.0348
1000Genomes East Asian Sub 1008 G=0.9980 C=0.0020
1000Genomes Europe Sub 1006 G=0.9453 C=0.0547
1000Genomes South Asian Sub 978 G=0.953 C=0.047
1000Genomes American Sub 694 G=0.860 C=0.140
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9248 C=0.0752
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9419 C=0.0581
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9409 C=0.0591
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9993 C=0.0007
HapMap Global Study-wide 1712 G=0.9404 C=0.0596
HapMap American Sub 756 G=0.927 C=0.073
HapMap African Sub 690 G=0.942 C=0.058
HapMap Europe Sub 176 G=0.960 C=0.040
HapMap Asian Sub 90 G=1.00 C=0.00
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.950 C=0.050
CNV burdens in cranial meningiomas Global Study-wide 792 G=0.999 C=0.001
CNV burdens in cranial meningiomas CRM Sub 792 G=0.999 C=0.001
Northern Sweden ACPOP Study-wide 600 G=0.912 C=0.088
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.957 C=0.043
FINRISK Finnish from FINRISK project Study-wide 304 G=0.944 C=0.056
Qatari Global Study-wide 216 G=0.944 C=0.056
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.995 C=0.005
SGDP_PRJ Global Study-wide 64 G=0.47 C=0.53
The Danish reference pan genome Danish Study-wide 40 G=0.90 C=0.10
Siberian Global Study-wide 4 G=0.5 C=0.5
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 1 NC_000001.11:g.3632268G>A
GRCh38.p14 chr 1 NC_000001.11:g.3632268G>C
GRCh38.p14 chr 1 NC_000001.11:g.3632268G>T
GRCh37.p13 chr 1 NC_000001.10:g.3548832G>A
GRCh37.p13 chr 1 NC_000001.10:g.3548832G>C
GRCh37.p13 chr 1 NC_000001.10:g.3548832G>T
WRAP73 RefSeqGene NG_033937.1:g.22840C>T
WRAP73 RefSeqGene NG_033937.1:g.22840C>G
WRAP73 RefSeqGene NG_033937.1:g.22840C>A
Gene: WRAP73, WD repeat containing, antisense to TP73 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
WRAP73 transcript NM_017818.4:c.993C>T I [ATC] > I [ATT] Coding Sequence Variant
WD repeat-containing protein WRAP73 NP_060288.3:p.Ile331= I (Ile) > I (Ile) Synonymous Variant
WRAP73 transcript NM_017818.4:c.993C>G I [ATC] > M [ATG] Coding Sequence Variant
WD repeat-containing protein WRAP73 NP_060288.3:p.Ile331Met I (Ile) > M (Met) Missense Variant
WRAP73 transcript NM_017818.4:c.993C>A I [ATC] > I [ATA] Coding Sequence Variant
WD repeat-containing protein WRAP73 NP_060288.3:p.Ile331= I (Ile) > I (Ile) Synonymous Variant
WRAP73 transcript variant X4 XM_047421663.1:c.923-112C…

XM_047421663.1:c.923-112C>T

N/A Intron Variant
WRAP73 transcript variant X1 XM_017001387.3:c.972C>T I [ATC] > I [ATT] Coding Sequence Variant
WD repeat-containing protein WRAP73 isoform X1 XP_016856876.1:p.Ile324= I (Ile) > I (Ile) Synonymous Variant
WRAP73 transcript variant X1 XM_017001387.3:c.972C>G I [ATC] > M [ATG] Coding Sequence Variant
WD repeat-containing protein WRAP73 isoform X1 XP_016856876.1:p.Ile324Met I (Ile) > M (Met) Missense Variant
WRAP73 transcript variant X1 XM_017001387.3:c.972C>A I [ATC] > I [ATA] Coding Sequence Variant
WD repeat-containing protein WRAP73 isoform X1 XP_016856876.1:p.Ile324= I (Ile) > I (Ile) Synonymous Variant
WRAP73 transcript variant X2 XM_005244754.3:c.858C>T I [ATC] > I [ATT] Coding Sequence Variant
WD repeat-containing protein WRAP73 isoform X2 XP_005244811.1:p.Ile286= I (Ile) > I (Ile) Synonymous Variant
WRAP73 transcript variant X2 XM_005244754.3:c.858C>G I [ATC] > M [ATG] Coding Sequence Variant
WD repeat-containing protein WRAP73 isoform X2 XP_005244811.1:p.Ile286Met I (Ile) > M (Met) Missense Variant
WRAP73 transcript variant X2 XM_005244754.3:c.858C>A I [ATC] > I [ATA] Coding Sequence Variant
WD repeat-containing protein WRAP73 isoform X2 XP_005244811.1:p.Ile286= I (Ile) > I (Ile) Synonymous Variant
WRAP73 transcript variant X3 XM_047421661.1:c.837C>T I [ATC] > I [ATT] Coding Sequence Variant
WD repeat-containing protein WRAP73 isoform X3 XP_047277617.1:p.Ile279= I (Ile) > I (Ile) Synonymous Variant
WRAP73 transcript variant X3 XM_047421661.1:c.837C>G I [ATC] > M [ATG] Coding Sequence Variant
WD repeat-containing protein WRAP73 isoform X3 XP_047277617.1:p.Ile279Met I (Ile) > M (Met) Missense Variant
WRAP73 transcript variant X3 XM_047421661.1:c.837C>A I [ATC] > I [ATA] Coding Sequence Variant
WD repeat-containing protein WRAP73 isoform X3 XP_047277617.1:p.Ile279= I (Ile) > I (Ile) Synonymous 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 C T
GRCh38.p14 chr 1 NC_000001.11:g.3632268= NC_000001.11:g.3632268G>A NC_000001.11:g.3632268G>C NC_000001.11:g.3632268G>T
GRCh37.p13 chr 1 NC_000001.10:g.3548832= NC_000001.10:g.3548832G>A NC_000001.10:g.3548832G>C NC_000001.10:g.3548832G>T
WRAP73 RefSeqGene NG_033937.1:g.22840= NG_033937.1:g.22840C>T NG_033937.1:g.22840C>G NG_033937.1:g.22840C>A
WRAP73 transcript NM_017818.4:c.993= NM_017818.4:c.993C>T NM_017818.4:c.993C>G NM_017818.4:c.993C>A
WRAP73 transcript NM_017818.3:c.993= NM_017818.3:c.993C>T NM_017818.3:c.993C>G NM_017818.3:c.993C>A
WRAP73 transcript variant X1 XM_017001387.3:c.972= XM_017001387.3:c.972C>T XM_017001387.3:c.972C>G XM_017001387.3:c.972C>A
WRAP73 transcript variant X1 XM_017001387.2:c.972= XM_017001387.2:c.972C>T XM_017001387.2:c.972C>G XM_017001387.2:c.972C>A
WRAP73 transcript variant X1 XM_017001387.1:c.972= XM_017001387.1:c.972C>T XM_017001387.1:c.972C>G XM_017001387.1:c.972C>A
WRAP73 transcript variant X2 XM_005244754.3:c.858= XM_005244754.3:c.858C>T XM_005244754.3:c.858C>G XM_005244754.3:c.858C>A
WRAP73 transcript variant X2 XM_005244754.2:c.858= XM_005244754.2:c.858C>T XM_005244754.2:c.858C>G XM_005244754.2:c.858C>A
WRAP73 transcript variant X2 XM_005244754.1:c.858= XM_005244754.1:c.858C>T XM_005244754.1:c.858C>G XM_005244754.1:c.858C>A
WRAP73 transcript variant X3 XM_047421661.1:c.837= XM_047421661.1:c.837C>T XM_047421661.1:c.837C>G XM_047421661.1:c.837C>A
WD repeat-containing protein WRAP73 NP_060288.3:p.Ile331= NP_060288.3:p.Ile331= NP_060288.3:p.Ile331Met NP_060288.3:p.Ile331=
WD repeat-containing protein WRAP73 isoform X1 XP_016856876.1:p.Ile324= XP_016856876.1:p.Ile324= XP_016856876.1:p.Ile324Met XP_016856876.1:p.Ile324=
WD repeat-containing protein WRAP73 isoform X2 XP_005244811.1:p.Ile286= XP_005244811.1:p.Ile286= XP_005244811.1:p.Ile286Met XP_005244811.1:p.Ile286=
WD repeat-containing protein WRAP73 isoform X3 XP_047277617.1:p.Ile279= XP_047277617.1:p.Ile279= XP_047277617.1:p.Ile279Met XP_047277617.1:p.Ile279=
WRAP73 transcript variant X2 XM_005244755.1:c.923-112= XM_005244755.1:c.923-112C>T XM_005244755.1:c.923-112C>G XM_005244755.1:c.923-112C>A
WRAP73 transcript variant X4 XM_047421663.1:c.923-112= XM_047421663.1:c.923-112C>T XM_047421663.1:c.923-112C>G XM_047421663.1:c.923-112C>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#.

97 SubSNP, 28 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss3897984 Sep 28, 2001 (100)
2 APPLERA_GI ss48417973 Mar 15, 2006 (126)
3 PERLEGEN ss68756651 May 18, 2007 (127)
4 AFFY ss76749984 Dec 07, 2007 (129)
5 KRIBB_YJKIM ss104879437 Feb 05, 2009 (130)
6 1000GENOMES ss107948012 Jan 22, 2009 (130)
7 SEATTLESEQ ss159695834 Dec 01, 2009 (131)
8 1000GENOMES ss217314387 Jul 14, 2010 (132)
9 1000GENOMES ss217405809 Jul 14, 2010 (132)
10 1000GENOMES ss217410466 Jul 14, 2010 (132)
11 1000GENOMES ss217410956 Jul 14, 2010 (132)
12 1000GENOMES ss230403531 Jul 14, 2010 (132)
13 NHLBI-ESP ss341927361 May 09, 2011 (134)
14 ILLUMINA ss482323533 May 04, 2012 (137)
15 ILLUMINA ss483402709 May 04, 2012 (137)
16 1000GENOMES ss489716385 May 04, 2012 (137)
17 EXOME_CHIP ss491284968 May 04, 2012 (137)
18 CLINSEQ_SNP ss491582825 May 04, 2012 (137)
19 ILLUMINA ss535614752 Sep 08, 2015 (146)
20 TISHKOFF ss553733215 Apr 25, 2013 (138)
21 SSMP ss647535178 Apr 25, 2013 (138)
22 ILLUMINA ss779506111 Sep 08, 2015 (146)
23 ILLUMINA ss782144534 Sep 08, 2015 (146)
24 ILLUMINA ss783558763 Sep 08, 2015 (146)
25 ILLUMINA ss834976408 Sep 08, 2015 (146)
26 EVA-GONL ss974794655 Aug 21, 2014 (142)
27 JMKIDD_LAB ss1067415151 Aug 21, 2014 (142)
28 JMKIDD_LAB ss1067626228 Aug 21, 2014 (142)
29 1000GENOMES ss1289444970 Aug 21, 2014 (142)
30 EVA_GENOME_DK ss1573859461 Apr 01, 2015 (144)
31 EVA_FINRISK ss1584004012 Apr 01, 2015 (144)
32 EVA_DECODE ss1584153597 Apr 01, 2015 (144)
33 EVA_UK10K_ALSPAC ss1599424096 Apr 01, 2015 (144)
34 EVA_UK10K_TWINSUK ss1642418129 Apr 01, 2015 (144)
35 EVA_EXAC ss1685260228 Apr 01, 2015 (144)
36 EVA_MGP ss1710885470 Apr 01, 2015 (144)
37 EVA_SVP ss1712306658 Apr 01, 2015 (144)
38 ILLUMINA ss1751917138 Sep 08, 2015 (146)
39 ILLUMINA ss1917721635 Feb 12, 2016 (147)
40 WEILL_CORNELL_DGM ss1917990146 Feb 12, 2016 (147)
41 ILLUMINA ss1945982708 Feb 12, 2016 (147)
42 ILLUMINA ss1958234498 Feb 12, 2016 (147)
43 JJLAB ss2019511232 Sep 14, 2016 (149)
44 USC_VALOUEV ss2147501571 Dec 20, 2016 (150)
45 HUMAN_LONGEVITY ss2159561058 Dec 20, 2016 (150)
46 ILLUMINA ss2632468439 Nov 08, 2017 (151)
47 ILLUMINA ss2632468440 Nov 08, 2017 (151)
48 GNOMAD ss2731054556 Nov 08, 2017 (151)
49 GNOMAD ss2746194390 Nov 08, 2017 (151)
50 GNOMAD ss2750954520 Nov 08, 2017 (151)
51 AFFY ss2984842499 Nov 08, 2017 (151)
52 SWEGEN ss2986198761 Nov 08, 2017 (151)
53 ILLUMINA ss3021047393 Nov 08, 2017 (151)
54 CSHL ss3343288069 Nov 08, 2017 (151)
55 ILLUMINA ss3626011513 Oct 11, 2018 (152)
56 ILLUMINA ss3630507806 Oct 11, 2018 (152)
57 ILLUMINA ss3634303365 Oct 11, 2018 (152)
58 ILLUMINA ss3640010730 Oct 11, 2018 (152)
59 ILLUMINA ss3644478570 Oct 11, 2018 (152)
60 OMUKHERJEE_ADBS ss3646220099 Oct 11, 2018 (152)
61 ILLUMINA ss3651370039 Oct 11, 2018 (152)
62 ILLUMINA ss3653616295 Oct 11, 2018 (152)
63 EGCUT_WGS ss3654299828 Jul 12, 2019 (153)
64 EVA_DECODE ss3686043997 Jul 12, 2019 (153)
65 ILLUMINA ss3724990706 Jul 12, 2019 (153)
66 ACPOP ss3726738593 Jul 12, 2019 (153)
67 ILLUMINA ss3744338071 Jul 12, 2019 (153)
68 ILLUMINA ss3744604362 Jul 12, 2019 (153)
69 EVA ss3745753100 Jul 12, 2019 (153)
70 PAGE_CC ss3770780659 Jul 12, 2019 (153)
71 ILLUMINA ss3772106017 Jul 12, 2019 (153)
72 KHV_HUMAN_GENOMES ss3798774830 Jul 12, 2019 (153)
73 EVA ss3823550243 Apr 25, 2020 (154)
74 EVA ss3825551132 Apr 25, 2020 (154)
75 EVA ss3825993231 Apr 25, 2020 (154)
76 EVA ss3836383727 Apr 25, 2020 (154)
77 EVA ss3841787876 Apr 25, 2020 (154)
78 SGDP_PRJ ss3848065873 Apr 25, 2020 (154)
79 KRGDB ss3892926843 Apr 25, 2020 (154)
80 FSA-LAB ss3983912917 Apr 25, 2021 (155)
81 EVA ss3984451101 Apr 25, 2021 (155)
82 EVA ss3986095082 Apr 25, 2021 (155)
83 TOPMED ss4437254143 Apr 25, 2021 (155)
84 TOPMED ss4437254144 Apr 25, 2021 (155)
85 TOPMED ss4437254145 Apr 25, 2021 (155)
86 EVA ss5236863341 Apr 25, 2021 (155)
87 1000G_HIGH_COVERAGE ss5240962381 Oct 12, 2022 (156)
88 EVA ss5316363050 Oct 12, 2022 (156)
89 HUGCELL_USP ss5442188828 Oct 12, 2022 (156)
90 1000G_HIGH_COVERAGE ss5512625623 Oct 12, 2022 (156)
91 EVA ss5623986388 Oct 12, 2022 (156)
92 SANFORD_IMAGENETICS ss5624805205 Oct 12, 2022 (156)
93 EVA ss5831457279 Oct 12, 2022 (156)
94 EVA ss5847522703 Oct 12, 2022 (156)
95 EVA ss5848245634 Oct 12, 2022 (156)
96 EVA ss5906804235 Oct 12, 2022 (156)
97 EVA ss5936630046 Oct 12, 2022 (156)
98 1000Genomes NC_000001.10 - 3548832 Oct 11, 2018 (152)
99 1000Genomes_30x NC_000001.11 - 3632268 Oct 12, 2022 (156)
100 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 3548832 Oct 11, 2018 (152)
101 Genetic variation in the Estonian population NC_000001.10 - 3548832 Oct 11, 2018 (152)
102 ExAC NC_000001.10 - 3548832 Oct 11, 2018 (152)
103 FINRISK NC_000001.10 - 3548832 Apr 25, 2020 (154)
104 The Danish reference pan genome NC_000001.10 - 3548832 Apr 25, 2020 (154)
105 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 820751 (NC_000001.11:3632267:G:C 8361/140242)
Row 820752 (NC_000001.11:3632267:G:T 1/140242)

- Apr 25, 2021 (155)
106 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 820751 (NC_000001.11:3632267:G:C 8361/140242)
Row 820752 (NC_000001.11:3632267:G:T 1/140242)

- Apr 25, 2021 (155)
107 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 69456 (NC_000001.10:3548831:G:G 251313/251314, NC_000001.10:3548831:G:A 1/251314)
Row 69457 (NC_000001.10:3548831:G:G 233061/251314, NC_000001.10:3548831:G:C 18253/251314)

- Jul 12, 2019 (153)
108 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 69456 (NC_000001.10:3548831:G:G 251313/251314, NC_000001.10:3548831:G:A 1/251314)
Row 69457 (NC_000001.10:3548831:G:G 233061/251314, NC_000001.10:3548831:G:C 18253/251314)

- Jul 12, 2019 (153)
109 GO Exome Sequencing Project NC_000001.10 - 3548832 Oct 11, 2018 (152)
110 Genome of the Netherlands Release 5 NC_000001.10 - 3548832 Apr 25, 2020 (154)
111 HapMap NC_000001.11 - 3632268 Apr 25, 2020 (154)
112 KOREAN population from KRGDB NC_000001.10 - 3548832 Apr 25, 2020 (154)
113 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 3548832 Apr 25, 2020 (154)
114 Northern Sweden NC_000001.10 - 3548832 Jul 12, 2019 (153)
115 The PAGE Study NC_000001.11 - 3632268 Jul 12, 2019 (153)
116 CNV burdens in cranial meningiomas NC_000001.10 - 3548832 Apr 25, 2021 (155)
117 Qatari NC_000001.10 - 3548832 Apr 25, 2020 (154)
118 SGDP_PRJ NC_000001.10 - 3548832 Apr 25, 2020 (154)
119 Siberian NC_000001.10 - 3548832 Apr 25, 2020 (154)
120 TopMed

Submission ignored due to conflicting rows:
Row 860478 (NC_000001.11:3632267:G:A 1/264690)
Row 860479 (NC_000001.11:3632267:G:C 16634/264690)
Row 860480 (NC_000001.11:3632267:G:T 1/264690)

- Apr 25, 2021 (155)
121 TopMed

Submission ignored due to conflicting rows:
Row 860478 (NC_000001.11:3632267:G:A 1/264690)
Row 860479 (NC_000001.11:3632267:G:C 16634/264690)
Row 860480 (NC_000001.11:3632267:G:T 1/264690)

- Apr 25, 2021 (155)
122 TopMed

Submission ignored due to conflicting rows:
Row 860478 (NC_000001.11:3632267:G:A 1/264690)
Row 860479 (NC_000001.11:3632267:G:C 16634/264690)
Row 860480 (NC_000001.11:3632267:G:T 1/264690)

- Apr 25, 2021 (155)
123 UK 10K study - Twins NC_000001.10 - 3548832 Oct 11, 2018 (152)
124 A Vietnamese Genetic Variation Database NC_000001.10 - 3548832 Jul 12, 2019 (153)
125 ALFA NC_000001.11 - 3632268 Apr 25, 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2731054556 NC_000001.10:3548831:G:A NC_000001.11:3632267:G:A (self)
15164146807, ss2159561058, ss4437254143 NC_000001.11:3632267:G:A NC_000001.11:3632267:G:A (self)
ss76749984, ss107948012, ss217314387, ss217405809, ss217410466, ss217410956, ss482323533, ss491582825, ss1584153597, ss1712306658 NC_000001.9:3538691:G:C NC_000001.11:3632267:G:C (self)
112794, 50079, 38076, 4436451, 473, 1366695, 8977, 21474, 104237, 2222, 23458, 401, 32076, 82853, 17925, 50079, 10466, ss230403531, ss341927361, ss483402709, ss489716385, ss491284968, ss535614752, ss553733215, ss647535178, ss779506111, ss782144534, ss783558763, ss834976408, ss974794655, ss1067415151, ss1067626228, ss1289444970, ss1573859461, ss1584004012, ss1599424096, ss1642418129, ss1685260228, ss1710885470, ss1751917138, ss1917721635, ss1917990146, ss1945982708, ss1958234498, ss2019511232, ss2147501571, ss2632468439, ss2632468440, ss2731054556, ss2746194390, ss2750954520, ss2984842499, ss2986198761, ss3021047393, ss3343288069, ss3626011513, ss3630507806, ss3634303365, ss3640010730, ss3644478570, ss3646220099, ss3651370039, ss3653616295, ss3654299828, ss3726738593, ss3744338071, ss3744604362, ss3745753100, ss3772106017, ss3823550243, ss3825551132, ss3825993231, ss3836383727, ss3848065873, ss3892926843, ss3983912917, ss3984451101, ss3986095082, ss5316363050, ss5623986388, ss5624805205, ss5831457279, ss5847522703, ss5848245634, ss5936630046 NC_000001.10:3548831:G:C NC_000001.11:3632267:G:C (self)
151558, 2595, 2128, 15164146807, ss2159561058, ss3686043997, ss3724990706, ss3770780659, ss3798774830, ss3841787876, ss4437254144, ss5236863341, ss5240962381, ss5442188828, ss5512625623, ss5906804235 NC_000001.11:3632267:G:C NC_000001.11:3632267:G:C (self)
ss3897984, ss48417973, ss68756651, ss104879437, ss159695834 NT_004350.19:3027463:G:C NC_000001.11:3632267:G:C (self)
15164146807, ss4437254145 NC_000001.11:3632267:G:T NC_000001.11:3632267:G:T (self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss2321716164 NC_000001.10:3548831:G:T NC_000001.11:3632267:G:T
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 rs2760320

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