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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.

rs11804831

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:1259424 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
T>A / T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.476221 (126051/264690, TOPMED)
C=0.438623 (61502/140216, GnomAD)
T=0.29407 (23120/78622, PAGE_STUDY) (+ 19 more)
C=0.26606 (20672/77698, ALFA)
T=0.00195 (55/28258, 14KJPN)
T=0.00155 (26/16758, 8.3KJPN)
T=0.3139 (2010/6404, 1000G_30x)
T=0.3141 (1573/5008, 1000G)
C=0.2208 (989/4480, Estonian)
C=0.1879 (724/3854, ALSPAC)
C=0.1869 (693/3708, TWINSUK)
T=0.0051 (15/2928, KOREAN)
T=0.3563 (741/2080, HGDP_Stanford)
T=0.0060 (11/1832, Korea1K)
T=0.3004 (539/1794, HapMap)
C=0.157 (157/998, GoNL)
C=0.245 (147/600, NorthernSweden)
T=0.115 (52/454, SGDP_PRJ)
C=0.398 (86/216, Qatari)
T=0.014 (3/214, Vietnamese)
C=0.15 (10/66, Ancient Sardinia)
T=0.32 (12/38, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
UBE2J2 : 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 77698 T=0.73394 C=0.26606
European Sub 64476 T=0.80911 C=0.19089
African Sub 4410 T=0.1692 C=0.8308
African Others Sub 174 T=0.029 C=0.971
African American Sub 4236 T=0.1749 C=0.8251
Asian Sub 226 T=0.027 C=0.973
East Asian Sub 188 T=0.011 C=0.989
Other Asian Sub 38 T=0.11 C=0.89
Latin American 1 Sub 256 T=0.625 C=0.375
Latin American 2 Sub 1290 T=0.4581 C=0.5419
South Asian Sub 4962 T=0.4258 C=0.5742
Other Sub 2078 T=0.5977 C=0.4023


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 T=0.523779 C=0.476221
gnomAD - Genomes Global Study-wide 140216 T=0.561377 C=0.438623
gnomAD - Genomes European Sub 75932 T=0.79941 C=0.20059
gnomAD - Genomes African Sub 42018 T=0.17212 C=0.82788
gnomAD - Genomes American Sub 13656 T=0.51011 C=0.48989
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.7733 C=0.2267
gnomAD - Genomes East Asian Sub 3134 T=0.0077 C=0.9923
gnomAD - Genomes Other Sub 2154 T=0.5673 C=0.4327
The PAGE Study Global Study-wide 78622 T=0.29407 C=0.70593
The PAGE Study AfricanAmerican Sub 32482 T=0.18690 C=0.81310
The PAGE Study Mexican Sub 10798 T=0.40156 C=0.59844
The PAGE Study Asian Sub 8316 T=0.0102 C=0.9898
The PAGE Study PuertoRican Sub 7906 T=0.5603 C=0.4397
The PAGE Study NativeHawaiian Sub 4528 T=0.2273 C=0.7727
The PAGE Study Cuban Sub 4226 T=0.6827 C=0.3173
The PAGE Study Dominican Sub 3824 T=0.4304 C=0.5696
The PAGE Study CentralAmerican Sub 2448 T=0.3431 C=0.6569
The PAGE Study SouthAmerican Sub 1980 T=0.3980 C=0.6020
The PAGE Study NativeAmerican Sub 1258 T=0.5668 C=0.4332
The PAGE Study SouthAsian Sub 856 T=0.347 C=0.653
Allele Frequency Aggregator Total Global 77698 T=0.73394 C=0.26606
Allele Frequency Aggregator European Sub 64476 T=0.80911 C=0.19089
Allele Frequency Aggregator South Asian Sub 4962 T=0.4258 C=0.5742
Allele Frequency Aggregator African Sub 4410 T=0.1692 C=0.8308
Allele Frequency Aggregator Other Sub 2078 T=0.5977 C=0.4023
Allele Frequency Aggregator Latin American 2 Sub 1290 T=0.4581 C=0.5419
Allele Frequency Aggregator Latin American 1 Sub 256 T=0.625 C=0.375
Allele Frequency Aggregator Asian Sub 226 T=0.027 C=0.973
14KJPN JAPANESE Study-wide 28258 T=0.00195 C=0.99805
8.3KJPN JAPANESE Study-wide 16758 T=0.00155 C=0.99845
1000Genomes_30x Global Study-wide 6404 T=0.3139 C=0.6861
1000Genomes_30x African Sub 1786 T=0.0622 C=0.9378
1000Genomes_30x Europe Sub 1266 T=0.8152 C=0.1848
1000Genomes_30x South Asian Sub 1202 T=0.3353 C=0.6647
1000Genomes_30x East Asian Sub 1170 T=0.0094 C=0.9906
1000Genomes_30x American Sub 980 T=0.462 C=0.538
1000Genomes Global Study-wide 5008 T=0.3141 C=0.6859
1000Genomes African Sub 1322 T=0.0688 C=0.9312
1000Genomes East Asian Sub 1008 T=0.0099 C=0.9901
1000Genomes Europe Sub 1006 T=0.8082 C=0.1918
1000Genomes South Asian Sub 978 T=0.345 C=0.655
1000Genomes American Sub 694 T=0.464 C=0.536
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.7792 C=0.2208
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.8121 C=0.1879
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.8131 C=0.1869
KOREAN population from KRGDB KOREAN Study-wide 2928 T=0.0051 A=0.0000, C=0.9949, G=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2080 T=0.3563 C=0.6438
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.034 C=0.966
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 412 T=0.512 C=0.488
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.689 C=0.311
HGDP-CEPH-db Supplement 1 Europe Sub 318 T=0.808 C=0.192
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.045 C=0.955
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.023 C=0.977
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.00 C=1.00
Korean Genome Project KOREAN Study-wide 1832 T=0.0060 C=0.9940
HapMap Global Study-wide 1794 T=0.3004 C=0.6996
HapMap American Sub 762 T=0.427 C=0.573
HapMap African Sub 686 T=0.095 C=0.905
HapMap Europe Sub 176 T=0.835 C=0.165
HapMap Asian Sub 170 T=0.012 C=0.988
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.843 C=0.157
Northern Sweden ACPOP Study-wide 600 T=0.755 C=0.245
SGDP_PRJ Global Study-wide 454 T=0.115 C=0.885
Qatari Global Study-wide 216 T=0.602 C=0.398
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.014 C=0.986
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 66 T=0.85 C=0.15
Siberian Global Study-wide 38 T=0.32 C=0.68
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.1259424T>A
GRCh38.p14 chr 1 NC_000001.11:g.1259424T>C
GRCh38.p14 chr 1 NC_000001.11:g.1259424T>G
GRCh37.p13 chr 1 NC_000001.10:g.1194804T>A
GRCh37.p13 chr 1 NC_000001.10:g.1194804T>C
GRCh37.p13 chr 1 NC_000001.10:g.1194804T>G
Gene: UBE2J2, ubiquitin conjugating enzyme E2 J2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
UBE2J2 transcript variant 2 NM_058167.3:c.173-2114A>T N/A Intron Variant
UBE2J2 transcript variant 1 NM_194315.2:c.221-2114A>T N/A Intron Variant
UBE2J2 transcript variant 4 NM_194457.2:c.17-2114A>T N/A Intron Variant
UBE2J2 transcript variant 3 NM_194458.2:c.17-2114A>T N/A Intron Variant
UBE2J2 transcript variant X2 XM_005244718.4:c.173-2114…

XM_005244718.4:c.173-2114A>T

N/A Intron Variant
UBE2J2 transcript variant X4 XM_005244719.5:c.173-2114…

XM_005244719.5:c.173-2114A>T

N/A Intron Variant
UBE2J2 transcript variant X3 XM_006710333.4:c.173-2114…

XM_006710333.4:c.173-2114A>T

N/A Intron Variant
UBE2J2 transcript variant X6 XM_011540613.4:c.68-2114A…

XM_011540613.4:c.68-2114A>T

N/A Intron Variant
UBE2J2 transcript variant X5 XM_011540614.3:c.173-2114…

XM_011540614.3:c.173-2114A>T

N/A Intron Variant
UBE2J2 transcript variant X7 XM_017000239.3:c.17-2114A…

XM_017000239.3:c.17-2114A>T

N/A Intron Variant
UBE2J2 transcript variant X1 XM_047444326.1:c.272-2114…

XM_047444326.1:c.272-2114A>T

N/A Intron Variant
UBE2J2 transcript variant X8 XM_047444339.1:c.17-2114A…

XM_047444339.1:c.17-2114A>T

N/A Intron Variant
UBE2J2 transcript variant X9 XM_047444356.1:c.17-2114A…

XM_047444356.1:c.17-2114A>T

N/A Intron Variant
UBE2J2 transcript variant X10 XM_047444358.1:c.17-2114A…

XM_047444358.1:c.17-2114A>T

N/A Intron 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 T= A C G
GRCh38.p14 chr 1 NC_000001.11:g.1259424= NC_000001.11:g.1259424T>A NC_000001.11:g.1259424T>C NC_000001.11:g.1259424T>G
GRCh37.p13 chr 1 NC_000001.10:g.1194804= NC_000001.10:g.1194804T>A NC_000001.10:g.1194804T>C NC_000001.10:g.1194804T>G
LOC100128842 transcript NR_027361.1:n.2151= NR_027361.1:n.2151A>T NR_027361.1:n.2151A>G NR_027361.1:n.2151A>C
UBE2J2 transcript variant 2 NM_058167.2:c.173-2114= NM_058167.2:c.173-2114A>T NM_058167.2:c.173-2114A>G NM_058167.2:c.173-2114A>C
UBE2J2 transcript variant 2 NM_058167.3:c.173-2114= NM_058167.3:c.173-2114A>T NM_058167.3:c.173-2114A>G NM_058167.3:c.173-2114A>C
UBE2J2 transcript variant 1 NM_194315.1:c.221-2114= NM_194315.1:c.221-2114A>T NM_194315.1:c.221-2114A>G NM_194315.1:c.221-2114A>C
UBE2J2 transcript variant 1 NM_194315.2:c.221-2114= NM_194315.2:c.221-2114A>T NM_194315.2:c.221-2114A>G NM_194315.2:c.221-2114A>C
UBE2J2 transcript variant 4 NM_194457.1:c.17-2114= NM_194457.1:c.17-2114A>T NM_194457.1:c.17-2114A>G NM_194457.1:c.17-2114A>C
UBE2J2 transcript variant 4 NM_194457.2:c.17-2114= NM_194457.2:c.17-2114A>T NM_194457.2:c.17-2114A>G NM_194457.2:c.17-2114A>C
UBE2J2 transcript variant 3 NM_194458.1:c.17-2114= NM_194458.1:c.17-2114A>T NM_194458.1:c.17-2114A>G NM_194458.1:c.17-2114A>C
UBE2J2 transcript variant 3 NM_194458.2:c.17-2114= NM_194458.2:c.17-2114A>T NM_194458.2:c.17-2114A>G NM_194458.2:c.17-2114A>C
UBE2J2 transcript variant X1 XM_005244718.1:c.173-2114= XM_005244718.1:c.173-2114A>T XM_005244718.1:c.173-2114A>G XM_005244718.1:c.173-2114A>C
UBE2J2 transcript variant X2 XM_005244718.4:c.173-2114= XM_005244718.4:c.173-2114A>T XM_005244718.4:c.173-2114A>G XM_005244718.4:c.173-2114A>C
UBE2J2 transcript variant X2 XM_005244719.1:c.173-2114= XM_005244719.1:c.173-2114A>T XM_005244719.1:c.173-2114A>G XM_005244719.1:c.173-2114A>C
UBE2J2 transcript variant X4 XM_005244719.5:c.173-2114= XM_005244719.5:c.173-2114A>T XM_005244719.5:c.173-2114A>G XM_005244719.5:c.173-2114A>C
UBE2J2 transcript variant X3 XM_006710333.4:c.173-2114= XM_006710333.4:c.173-2114A>T XM_006710333.4:c.173-2114A>G XM_006710333.4:c.173-2114A>C
UBE2J2 transcript variant X6 XM_011540613.4:c.68-2114= XM_011540613.4:c.68-2114A>T XM_011540613.4:c.68-2114A>G XM_011540613.4:c.68-2114A>C
UBE2J2 transcript variant X5 XM_011540614.3:c.173-2114= XM_011540614.3:c.173-2114A>T XM_011540614.3:c.173-2114A>G XM_011540614.3:c.173-2114A>C
UBE2J2 transcript variant X7 XM_017000239.3:c.17-2114= XM_017000239.3:c.17-2114A>T XM_017000239.3:c.17-2114A>G XM_017000239.3:c.17-2114A>C
UBE2J2 transcript variant X1 XM_047444326.1:c.272-2114= XM_047444326.1:c.272-2114A>T XM_047444326.1:c.272-2114A>G XM_047444326.1:c.272-2114A>C
UBE2J2 transcript variant X8 XM_047444339.1:c.17-2114= XM_047444339.1:c.17-2114A>T XM_047444339.1:c.17-2114A>G XM_047444339.1:c.17-2114A>C
UBE2J2 transcript variant X9 XM_047444356.1:c.17-2114= XM_047444356.1:c.17-2114A>T XM_047444356.1:c.17-2114A>G XM_047444356.1:c.17-2114A>C
UBE2J2 transcript variant X10 XM_047444358.1:c.17-2114= XM_047444358.1:c.17-2114A>T XM_047444358.1:c.17-2114A>G XM_047444358.1:c.17-2114A>C
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#.

105 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss17347563 Feb 28, 2004 (120)
2 SSAHASNP ss20561908 Apr 05, 2004 (121)
3 ABI ss44049058 Mar 15, 2006 (126)
4 ILLUMINA ss66796535 Dec 02, 2006 (127)
5 ILLUMINA ss66958500 Dec 02, 2006 (127)
6 ILLUMINA ss67122442 Dec 02, 2006 (127)
7 ILLUMINA ss70400389 May 18, 2007 (127)
8 ILLUMINA ss70543561 May 23, 2008 (130)
9 ILLUMINA ss71076062 May 18, 2007 (127)
10 ILLUMINA ss75706577 Dec 06, 2007 (129)
11 HGSV ss83654308 Dec 14, 2007 (130)
12 KRIBB_YJKIM ss85145093 Dec 14, 2007 (130)
13 BGI ss105112274 Dec 01, 2009 (131)
14 1000GENOMES ss109942371 Jan 24, 2009 (130)
15 ILLUMINA-UK ss118440744 Feb 14, 2009 (130)
16 ILLUMINA ss121509344 Dec 01, 2009 (131)
17 ILLUMINA ss153067207 Dec 01, 2009 (131)
18 GMI ss154529034 Dec 01, 2009 (131)
19 ILLUMINA ss159190783 Dec 01, 2009 (131)
20 ENSEMBL ss161163195 Dec 01, 2009 (131)
21 COMPLETE_GENOMICS ss162984447 Jul 04, 2010 (132)
22 ILLUMINA ss169967232 Jul 04, 2010 (132)
23 ILLUMINA ss171595507 Jul 04, 2010 (132)
24 BUSHMAN ss197890849 Jul 04, 2010 (132)
25 BCM-HGSC-SUB ss205396903 Jul 04, 2010 (132)
26 1000GENOMES ss218192676 Jul 14, 2010 (132)
27 1000GENOMES ss230396955 Jul 14, 2010 (132)
28 1000GENOMES ss238116411 Jul 15, 2010 (132)
29 ILLUMINA ss244274127 Jul 04, 2010 (132)
30 GMI ss275682847 May 04, 2012 (137)
31 PJP ss290494486 May 09, 2011 (134)
32 ILLUMINA ss482086006 May 04, 2012 (137)
33 ILLUMINA ss483129280 May 04, 2012 (137)
34 ILLUMINA ss535352152 Sep 08, 2015 (146)
35 TISHKOFF ss553715402 Apr 25, 2013 (138)
36 SSMP ss647519484 Apr 25, 2013 (138)
37 ILLUMINA ss780161960 Aug 21, 2014 (142)
38 ILLUMINA ss782007997 Aug 21, 2014 (142)
39 ILLUMINA ss825369697 Apr 01, 2015 (144)
40 ILLUMINA ss832703263 Jul 12, 2019 (153)
41 ILLUMINA ss835645748 Aug 21, 2014 (142)
42 EVA-GONL ss974773450 Aug 21, 2014 (142)
43 JMKIDD_LAB ss1067614466 Aug 21, 2014 (142)
44 1000GENOMES ss1289356289 Aug 21, 2014 (142)
45 DDI ss1425686106 Apr 01, 2015 (144)
46 EVA_DECODE ss1584133389 Apr 01, 2015 (144)
47 EVA_UK10K_ALSPAC ss1599385230 Apr 01, 2015 (144)
48 EVA_UK10K_TWINSUK ss1642379263 Apr 01, 2015 (144)
49 EVA_SVP ss1712305609 Apr 01, 2015 (144)
50 HAMMER_LAB ss1793720207 Sep 08, 2015 (146)
51 WEILL_CORNELL_DGM ss1917965723 Feb 12, 2016 (147)
52 ILLUMINA ss1958231128 Feb 12, 2016 (147)
53 JJLAB ss2019500628 Sep 14, 2016 (149)
54 ILLUMINA ss2094782207 Dec 20, 2016 (150)
55 ILLUMINA ss2094948870 Dec 20, 2016 (150)
56 USC_VALOUEV ss2147487656 Dec 20, 2016 (150)
57 HUMAN_LONGEVITY ss2159398217 Dec 20, 2016 (150)
58 SYSTEMSBIOZJU ss2624265969 Nov 08, 2017 (151)
59 ILLUMINA ss2632465912 Nov 08, 2017 (151)
60 GRF ss2697378392 Nov 08, 2017 (151)
61 GNOMAD ss2750688568 Nov 08, 2017 (151)
62 SWEGEN ss2986156837 Nov 08, 2017 (151)
63 ILLUMINA ss3021044082 Nov 08, 2017 (151)
64 BIOINF_KMB_FNS_UNIBA ss3023514628 Nov 08, 2017 (151)
65 CSHL ss3343275148 Nov 08, 2017 (151)
66 ILLUMINA ss3625523529 Oct 11, 2018 (152)
67 ILLUMINA ss3626007394 Oct 11, 2018 (152)
68 ILLUMINA ss3630505898 Oct 11, 2018 (152)
69 ILLUMINA ss3637732587 Oct 11, 2018 (152)
70 ILLUMINA ss3638887891 Oct 11, 2018 (152)
71 ILLUMINA ss3639440657 Oct 11, 2018 (152)
72 ILLUMINA ss3641566434 Oct 11, 2018 (152)
73 ILLUMINA ss3642746860 Oct 11, 2018 (152)
74 OMUKHERJEE_ADBS ss3646219073 Oct 11, 2018 (152)
75 ILLUMINA ss3651366142 Oct 11, 2018 (152)
76 EGCUT_WGS ss3654267951 Jul 12, 2019 (153)
77 EVA_DECODE ss3686001095 Jul 12, 2019 (153)
78 ILLUMINA ss3724988640 Jul 12, 2019 (153)
79 ACPOP ss3726720035 Jul 12, 2019 (153)
80 EVA ss3745726065 Jul 12, 2019 (153)
81 PAGE_CC ss3770778971 Jul 12, 2019 (153)
82 KHV_HUMAN_GENOMES ss3798748785 Jul 12, 2019 (153)
83 EVA ss3825983359 Apr 25, 2020 (154)
84 HGDP ss3847322142 Apr 25, 2020 (154)
85 SGDP_PRJ ss3848007960 Apr 25, 2020 (154)
86 KRGDB ss3892851181 Apr 25, 2020 (154)
87 KOGIC ss3943639629 Apr 25, 2020 (154)
88 FSA-LAB ss3983910862 Apr 25, 2021 (155)
89 FSA-LAB ss3983910863 Apr 25, 2021 (155)
90 EVA ss3984774130 Apr 25, 2021 (155)
91 EVA ss4016889183 Apr 25, 2021 (155)
92 TOPMED ss4436564973 Apr 25, 2021 (155)
93 TOMMO_GENOMICS ss5142074154 Apr 25, 2021 (155)
94 1000G_HIGH_COVERAGE ss5240879082 Oct 12, 2022 (156)
95 EVA ss5314586135 Oct 12, 2022 (156)
96 EVA ss5316209081 Oct 12, 2022 (156)
97 HUGCELL_USP ss5442124880 Oct 12, 2022 (156)
98 1000G_HIGH_COVERAGE ss5512509905 Oct 12, 2022 (156)
99 SANFORD_IMAGENETICS ss5624758448 Oct 12, 2022 (156)
100 TOMMO_GENOMICS ss5666221201 Oct 12, 2022 (156)
101 YY_MCH ss5800247645 Oct 12, 2022 (156)
102 EVA ss5831425283 Oct 12, 2022 (156)
103 EVA ss5848750333 Oct 12, 2022 (156)
104 EVA ss5906720737 Oct 12, 2022 (156)
105 EVA ss5936590456 Oct 12, 2022 (156)
106 1000Genomes NC_000001.10 - 1194804 Oct 11, 2018 (152)
107 1000Genomes_30x NC_000001.11 - 1259424 Oct 12, 2022 (156)
108 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 1194804 Oct 11, 2018 (152)
109 Genetic variation in the Estonian population NC_000001.10 - 1194804 Oct 11, 2018 (152)
110 gnomAD - Genomes NC_000001.11 - 1259424 Apr 25, 2021 (155)
111 Genome of the Netherlands Release 5 NC_000001.10 - 1194804 Apr 25, 2020 (154)
112 HGDP-CEPH-db Supplement 1 NC_000001.9 - 1184667 Apr 25, 2020 (154)
113 HapMap NC_000001.11 - 1259424 Apr 25, 2020 (154)
114 KOREAN population from KRGDB NC_000001.10 - 1194804 Apr 25, 2020 (154)
115 Korean Genome Project NC_000001.11 - 1259424 Apr 25, 2020 (154)
116 Northern Sweden NC_000001.10 - 1194804 Jul 12, 2019 (153)
117 The PAGE Study NC_000001.11 - 1259424 Jul 12, 2019 (153)
118 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 1194804 Apr 25, 2021 (155)
119 Qatari NC_000001.10 - 1194804 Apr 25, 2020 (154)
120 SGDP_PRJ NC_000001.10 - 1194804 Apr 25, 2020 (154)
121 Siberian NC_000001.10 - 1194804 Apr 25, 2020 (154)
122 8.3KJPN NC_000001.10 - 1194804 Apr 25, 2021 (155)
123 14KJPN NC_000001.11 - 1259424 Oct 12, 2022 (156)
124 TopMed NC_000001.11 - 1259424 Apr 25, 2021 (155)
125 UK 10K study - Twins NC_000001.10 - 1194804 Oct 11, 2018 (152)
126 A Vietnamese Genetic Variation Database NC_000001.10 - 1194804 Jul 12, 2019 (153)
127 ALFA NC_000001.11 - 1259424 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).

Associated ID History Updated (Build)
rs56951538 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
28575, ss3892851181 NC_000001.10:1194803:T:A NC_000001.11:1259423:T:A (self)
ss83654308, ss3638887891, ss3639440657 NC_000001.8:1234726:T:C NC_000001.11:1259423:T:C (self)
34, ss109942371, ss118440744, ss162984447, ss197890849, ss205396903, ss275682847, ss290494486, ss482086006, ss825369697, ss1584133389, ss1712305609, ss3642746860, ss3847322142 NC_000001.9:1184666:T:C NC_000001.11:1259423:T:C (self)
21572, 7785, 6199, 3275, 28575, 4900, 57, 7653, 24940, 4010, 43461, 7785, 1707, ss218192676, ss230396955, ss238116411, ss483129280, ss535352152, ss553715402, ss647519484, ss780161960, ss782007997, ss832703263, ss835645748, ss974773450, ss1067614466, ss1289356289, ss1425686106, ss1599385230, ss1642379263, ss1793720207, ss1917965723, ss1958231128, ss2019500628, ss2094782207, ss2094948870, ss2147487656, ss2624265969, ss2632465912, ss2697378392, ss2750688568, ss2986156837, ss3021044082, ss3343275148, ss3625523529, ss3626007394, ss3630505898, ss3637732587, ss3641566434, ss3646219073, ss3651366142, ss3654267951, ss3726720035, ss3745726065, ss3825983359, ss3848007960, ss3892851181, ss3983910862, ss3983910863, ss3984774130, ss4016889183, ss5142074154, ss5314586135, ss5316209081, ss5624758448, ss5831425283, ss5936590456 NC_000001.10:1194803:T:C NC_000001.11:1259423:T:C (self)
35840, 180443, 339, 17630, 440, 58305, 171308, 2526684068, ss2159398217, ss3023514628, ss3686001095, ss3724988640, ss3770778971, ss3798748785, ss3943639629, ss4436564973, ss5240879082, ss5442124880, ss5512509905, ss5666221201, ss5800247645, ss5848750333, ss5906720737 NC_000001.11:1259423:T:C NC_000001.11:1259423:T:C (self)
ss44049058, ss66796535, ss66958500, ss67122442, ss70400389, ss70543561, ss71076062, ss75706577, ss85145093, ss105112274, ss121509344, ss153067207, ss154529034, ss159190783, ss161163195, ss169967232, ss171595507, ss244274127 NT_004350.19:673435:T:C NC_000001.11:1259423:T:C (self)
ss17347563, ss20561908 NT_077913.2:198514:T:C NC_000001.11:1259423:T:C (self)
28575, ss3892851181 NC_000001.10:1194803:T:G NC_000001.11:1259423:T:G (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 rs11804831

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