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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.

rs2013854

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr4:16023262 (GRCh38.p13) Help

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

Alleles
A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.266391 (70511/264690, TOPMED)
A=0.254422 (35612/139972, GnomAD)
A=0.26637 (5019/18842, ALFA) (+ 18 more)
A=0.27763 (4653/16760, 8.3KJPN)
A=0.2979 (1492/5008, 1000G)
A=0.1435 (643/4480, Estonian)
A=0.2097 (808/3854, ALSPAC)
A=0.2139 (793/3708, TWINSUK)
A=0.3177 (931/2930, KOREAN)
A=0.2926 (549/1876, HapMap)
A=0.3231 (592/1832, Korea1K)
A=0.1646 (186/1130, Daghestan)
A=0.206 (206/998, GoNL)
A=0.228 (137/600, NorthernSweden)
A=0.185 (99/534, MGP)
A=0.176 (90/512, SGDP_PRJ)
A=0.139 (30/216, Qatari)
A=0.367 (77/210, Vietnamese)
A=0.28 (26/94, Ancient Sardinia)
A=0.23 (13/56, Siberian)
A=0.28 (11/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
PROM1 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 4 NC_000004.12:g.16023262A>G
GRCh38.p13 chr 4 NC_000004.12:g.16023262A>T
GRCh37.p13 chr 4 NC_000004.11:g.16024885A>G
GRCh37.p13 chr 4 NC_000004.11:g.16024885A>T
PROM1 RefSeqGene NG_011696.2:g.65798T>C
PROM1 RefSeqGene NG_011696.2:g.65798T>A
PROM1 RefSeqGene NG_011696.1:g.65739T>C
PROM1 RefSeqGene NG_011696.1:g.65739T>A
Gene: PROM1, prominin 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PROM1 transcript variant 2 NM_001145847.2:c.757+64T>C N/A Intron Variant
PROM1 transcript variant 3 NM_001145848.2:c.757+64T>C N/A Intron Variant
PROM1 transcript variant 7 NM_001145849.2:c.784+64T>C N/A Intron Variant
PROM1 transcript variant 6 NM_001145850.2:c.784+64T>C N/A Intron Variant
PROM1 transcript variant 5 NM_001145851.2:c.757+64T>C N/A Intron Variant
PROM1 transcript variant 4 NM_001145852.2:c.757+64T>C N/A Intron Variant
PROM1 transcript variant 8 NM_001371406.1:c.757+64T>C N/A Intron Variant
PROM1 transcript variant 9 NM_001371407.1:c.757+64T>C N/A Intron Variant
PROM1 transcript variant 10 NM_001371408.1:c.757+64T>C N/A Intron Variant
PROM1 transcript variant 1 NM_006017.3:c.784+64T>C N/A Intron Variant
PROM1 transcript variant X13 XM_005248195.5:c.757+64T>C N/A Intron Variant
PROM1 transcript variant X14 XM_005248196.5:c.757+64T>C N/A Intron Variant
PROM1 transcript variant X19 XM_006713974.3:c.550+64T>C N/A Intron Variant
PROM1 transcript variant X2 XM_011513892.2:c.784+64T>C N/A Intron Variant
PROM1 transcript variant X3 XM_011513893.2:c.784+64T>C N/A Intron Variant
PROM1 transcript variant X4 XM_011513894.3:c.784+64T>C N/A Intron Variant
PROM1 transcript variant X5 XM_011513895.2:c.784+64T>C N/A Intron Variant
PROM1 transcript variant X6 XM_011513896.2:c.784+64T>C N/A Intron Variant
PROM1 transcript variant X7 XM_011513897.3:c.784+64T>C N/A Intron Variant
PROM1 transcript variant X9 XM_011513900.2:c.784+64T>C N/A Intron Variant
PROM1 transcript variant X11 XM_011513902.2:c.784+64T>C N/A Intron Variant
PROM1 transcript variant X18 XM_011513903.2:c.577+64T>C N/A Intron Variant
PROM1 transcript variant X10 XM_017008800.1:c.784+64T>C N/A Intron Variant
PROM1 transcript variant X20 XM_024454276.1:c.511+64T>C 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.

Allele: G (allele ID: 660370 )
ClinVar Accession Disease Names Clinical Significance
RCV000836687.1 not provided Benign

ALFA Allele Frequency (New)
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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 18842 A=0.26637 G=0.73363, T=0.00000
European Sub 10160 A=0.20049 G=0.79951, T=0.00000
African Sub 4926 A=0.3918 G=0.6082, T=0.0000
African Others Sub 148 A=0.473 G=0.527, T=0.000
African American Sub 4778 A=0.3893 G=0.6107, T=0.0000
Asian Sub 74 A=0.54 G=0.46, T=0.00
East Asian Sub 36 A=0.69 G=0.31, T=0.00
Other Asian Sub 38 A=0.39 G=0.61, T=0.00
Latin American 1 Sub 176 A=0.369 G=0.631, T=0.000
Latin American 2 Sub 2226 A=0.2808 G=0.7192, T=0.0000
South Asian Sub 26 A=0.46 G=0.54, T=0.00
Other Sub 1254 A=0.2472 G=0.7528, 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 A=0.266391 G=0.733609
gnomAD - Genomes Global Study-wide 139972 A=0.254422 G=0.745578
gnomAD - Genomes European Sub 75870 A=0.19912 G=0.80088
gnomAD - Genomes African Sub 41876 A=0.33924 G=0.66076
gnomAD - Genomes American Sub 13638 A=0.29256 G=0.70744
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.2327 G=0.7673
gnomAD - Genomes East Asian Sub 3118 A=0.3220 G=0.6780
gnomAD - Genomes Other Sub 2148 A=0.2477 G=0.7523
8.3KJPN JAPANESE Study-wide 16760 A=0.27763 G=0.72237
1000Genomes Global Study-wide 5008 A=0.2979 G=0.7021
1000Genomes African Sub 1322 A=0.3926 G=0.6074
1000Genomes East Asian Sub 1008 A=0.3373 G=0.6627
1000Genomes Europe Sub 1006 A=0.1938 G=0.8062
1000Genomes South Asian Sub 978 A=0.244 G=0.756
1000Genomes American Sub 694 A=0.287 G=0.713
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.1435 G=0.8565
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.2097 G=0.7903
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.2139 G=0.7861
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.3177 G=0.6823, T=0.0000
HapMap Global Study-wide 1876 A=0.2926 G=0.7074
HapMap American Sub 760 A=0.288 G=0.712
HapMap African Sub 688 A=0.339 G=0.661
HapMap Asian Sub 252 A=0.274 G=0.726
HapMap Europe Sub 176 A=0.159 G=0.841
Korean Genome Project KOREAN Study-wide 1832 A=0.3231 G=0.6769
Genome-wide autozygosity in Daghestan Global Study-wide 1130 A=0.1646 G=0.8354
Genome-wide autozygosity in Daghestan Daghestan Sub 626 A=0.144 G=0.856
Genome-wide autozygosity in Daghestan Near_East Sub 142 A=0.134 G=0.866
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.230 G=0.770
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.204 G=0.796
Genome-wide autozygosity in Daghestan South Asian Sub 96 A=0.22 G=0.78
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=0.17 G=0.83
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.206 G=0.794
Northern Sweden ACPOP Study-wide 600 A=0.228 G=0.772
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.185 G=0.815
SGDP_PRJ Global Study-wide 512 A=0.176 G=0.824
Qatari Global Study-wide 216 A=0.139 G=0.861
A Vietnamese Genetic Variation Database Global Study-wide 210 A=0.367 G=0.633
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 94 A=0.28 G=0.72
Siberian Global Study-wide 56 A=0.23 G=0.77
The Danish reference pan genome Danish Study-wide 40 A=0.28 G=0.72
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 A= G T
GRCh38.p13 chr 4 NC_000004.12:g.16023262= NC_000004.12:g.16023262A>G NC_000004.12:g.16023262A>T
GRCh37.p13 chr 4 NC_000004.11:g.16024885= NC_000004.11:g.16024885A>G NC_000004.11:g.16024885A>T
PROM1 RefSeqGene NG_011696.2:g.65798= NG_011696.2:g.65798T>C NG_011696.2:g.65798T>A
PROM1 RefSeqGene NG_011696.1:g.65739= NG_011696.1:g.65739T>C NG_011696.1:g.65739T>A
PROM1 transcript variant 2 NM_001145847.1:c.757+64= NM_001145847.1:c.757+64T>C NM_001145847.1:c.757+64T>A
PROM1 transcript variant 2 NM_001145847.2:c.757+64= NM_001145847.2:c.757+64T>C NM_001145847.2:c.757+64T>A
PROM1 transcript variant 3 NM_001145848.1:c.757+64= NM_001145848.1:c.757+64T>C NM_001145848.1:c.757+64T>A
PROM1 transcript variant 3 NM_001145848.2:c.757+64= NM_001145848.2:c.757+64T>C NM_001145848.2:c.757+64T>A
PROM1 transcript variant 7 NM_001145849.1:c.784+64= NM_001145849.1:c.784+64T>C NM_001145849.1:c.784+64T>A
PROM1 transcript variant 7 NM_001145849.2:c.784+64= NM_001145849.2:c.784+64T>C NM_001145849.2:c.784+64T>A
PROM1 transcript variant 6 NM_001145850.1:c.784+64= NM_001145850.1:c.784+64T>C NM_001145850.1:c.784+64T>A
PROM1 transcript variant 6 NM_001145850.2:c.784+64= NM_001145850.2:c.784+64T>C NM_001145850.2:c.784+64T>A
PROM1 transcript variant 5 NM_001145851.1:c.757+64= NM_001145851.1:c.757+64T>C NM_001145851.1:c.757+64T>A
PROM1 transcript variant 5 NM_001145851.2:c.757+64= NM_001145851.2:c.757+64T>C NM_001145851.2:c.757+64T>A
PROM1 transcript variant 4 NM_001145852.1:c.757+64= NM_001145852.1:c.757+64T>C NM_001145852.1:c.757+64T>A
PROM1 transcript variant 4 NM_001145852.2:c.757+64= NM_001145852.2:c.757+64T>C NM_001145852.2:c.757+64T>A
PROM1 transcript variant 8 NM_001371406.1:c.757+64= NM_001371406.1:c.757+64T>C NM_001371406.1:c.757+64T>A
PROM1 transcript variant 9 NM_001371407.1:c.757+64= NM_001371407.1:c.757+64T>C NM_001371407.1:c.757+64T>A
PROM1 transcript variant 10 NM_001371408.1:c.757+64= NM_001371408.1:c.757+64T>C NM_001371408.1:c.757+64T>A
PROM1 transcript variant 1 NM_006017.2:c.784+64= NM_006017.2:c.784+64T>C NM_006017.2:c.784+64T>A
PROM1 transcript variant 1 NM_006017.3:c.784+64= NM_006017.3:c.784+64T>C NM_006017.3:c.784+64T>A
PROM1 transcript variant X1 XM_005248194.1:c.784+64= XM_005248194.1:c.784+64T>C XM_005248194.1:c.784+64T>A
PROM1 transcript variant X2 XM_005248195.1:c.757+64= XM_005248195.1:c.757+64T>C XM_005248195.1:c.757+64T>A
PROM1 transcript variant X13 XM_005248195.5:c.757+64= XM_005248195.5:c.757+64T>C XM_005248195.5:c.757+64T>A
PROM1 transcript variant X3 XM_005248196.1:c.757+64= XM_005248196.1:c.757+64T>C XM_005248196.1:c.757+64T>A
PROM1 transcript variant X14 XM_005248196.5:c.757+64= XM_005248196.5:c.757+64T>C XM_005248196.5:c.757+64T>A
PROM1 transcript variant X19 XM_006713974.3:c.550+64= XM_006713974.3:c.550+64T>C XM_006713974.3:c.550+64T>A
PROM1 transcript variant X2 XM_011513892.2:c.784+64= XM_011513892.2:c.784+64T>C XM_011513892.2:c.784+64T>A
PROM1 transcript variant X3 XM_011513893.2:c.784+64= XM_011513893.2:c.784+64T>C XM_011513893.2:c.784+64T>A
PROM1 transcript variant X4 XM_011513894.3:c.784+64= XM_011513894.3:c.784+64T>C XM_011513894.3:c.784+64T>A
PROM1 transcript variant X5 XM_011513895.2:c.784+64= XM_011513895.2:c.784+64T>C XM_011513895.2:c.784+64T>A
PROM1 transcript variant X6 XM_011513896.2:c.784+64= XM_011513896.2:c.784+64T>C XM_011513896.2:c.784+64T>A
PROM1 transcript variant X7 XM_011513897.3:c.784+64= XM_011513897.3:c.784+64T>C XM_011513897.3:c.784+64T>A
PROM1 transcript variant X9 XM_011513900.2:c.784+64= XM_011513900.2:c.784+64T>C XM_011513900.2:c.784+64T>A
PROM1 transcript variant X11 XM_011513902.2:c.784+64= XM_011513902.2:c.784+64T>C XM_011513902.2:c.784+64T>A
PROM1 transcript variant X18 XM_011513903.2:c.577+64= XM_011513903.2:c.577+64T>C XM_011513903.2:c.577+64T>A
PROM1 transcript variant X10 XM_017008800.1:c.784+64= XM_017008800.1:c.784+64T>C XM_017008800.1:c.784+64T>A
PROM1 transcript variant X20 XM_024454276.1:c.511+64= XM_024454276.1:c.511+64T>C XM_024454276.1:c.511+64T>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#.

94 SubSNP, 21 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2859968 Jan 23, 2001 (92)
2 WI_SSAHASNP ss14627744 Dec 05, 2003 (119)
3 CSHL-HAPMAP ss17042657 Feb 27, 2004 (120)
4 SSAHASNP ss22185886 Apr 05, 2004 (121)
5 PERLEGEN ss23711009 Sep 20, 2004 (123)
6 ABI ss44542183 Mar 15, 2006 (126)
7 ILLUMINA ss65758186 Oct 16, 2006 (127)
8 AFFY ss66100762 Dec 01, 2006 (127)
9 ILLUMINA ss74855121 Dec 07, 2007 (129)
10 AFFY ss76067510 Dec 07, 2007 (129)
11 HGSV ss77320457 Dec 07, 2007 (129)
12 HGSV ss78831547 Dec 07, 2007 (129)
13 KRIBB_YJKIM ss81657446 Dec 16, 2007 (130)
14 HGSV ss84873755 Dec 15, 2007 (130)
15 BCMHGSC_JDW ss92485131 Mar 24, 2008 (129)
16 HUMANGENOME_JCVI ss98805258 Feb 05, 2009 (130)
17 KRIBB_YJKIM ss102645285 Feb 05, 2009 (130)
18 BGI ss105808544 Feb 05, 2009 (130)
19 1000GENOMES ss111849926 Jan 25, 2009 (130)
20 1000GENOMES ss112950853 Jan 25, 2009 (130)
21 ILLUMINA-UK ss116888569 Feb 14, 2009 (130)
22 ENSEMBL ss139464877 Dec 01, 2009 (131)
23 ENSEMBL ss139753657 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss161930039 Jul 04, 2010 (132)
25 COMPLETE_GENOMICS ss163140562 Jul 04, 2010 (132)
26 COMPLETE_GENOMICS ss166215685 Jul 04, 2010 (132)
27 AFFY ss172385378 Jul 04, 2010 (132)
28 ILLUMINA ss173044415 Jul 04, 2010 (132)
29 BUSHMAN ss198108369 Jul 04, 2010 (132)
30 BCM-HGSC-SUB ss206361041 Jul 04, 2010 (132)
31 1000GENOMES ss220765289 Jul 14, 2010 (132)
32 1000GENOMES ss232276830 Jul 14, 2010 (132)
33 1000GENOMES ss239593644 Jul 15, 2010 (132)
34 BL ss252958725 May 09, 2011 (134)
35 GMI ss277591217 May 04, 2012 (137)
36 GMI ss284854230 Apr 25, 2013 (138)
37 PJP ss293294558 May 09, 2011 (134)
38 ILLUMINA ss537022802 Sep 08, 2015 (146)
39 TISHKOFF ss557338475 Apr 25, 2013 (138)
40 SSMP ss651103083 Apr 25, 2013 (138)
41 EVA-GONL ss979810823 Aug 21, 2014 (142)
42 JMKIDD_LAB ss1071308047 Aug 21, 2014 (142)
43 1000GENOMES ss1308602733 Aug 21, 2014 (142)
44 HAMMER_LAB ss1397368044 Sep 08, 2015 (146)
45 DDI ss1429787786 Apr 01, 2015 (144)
46 EVA_GENOME_DK ss1580433286 Apr 01, 2015 (144)
47 EVA_DECODE ss1589299476 Apr 01, 2015 (144)
48 EVA_UK10K_ALSPAC ss1609498118 Apr 01, 2015 (144)
49 EVA_UK10K_TWINSUK ss1652492151 Apr 01, 2015 (144)
50 EVA_MGP ss1711054653 Apr 01, 2015 (144)
51 EVA_SVP ss1712654430 Apr 01, 2015 (144)
52 HAMMER_LAB ss1801062774 Sep 08, 2015 (146)
53 WEILL_CORNELL_DGM ss1923049224 Feb 12, 2016 (147)
54 GENOMED ss1969669190 Sep 14, 2016 (149)
55 JJLAB ss2022097829 Sep 14, 2016 (149)
56 ILLUMINA ss2095142482 Dec 20, 2016 (150)
57 USC_VALOUEV ss2150208280 Dec 20, 2016 (150)
58 HUMAN_LONGEVITY ss2260747290 Dec 20, 2016 (150)
59 TOPMED ss2428252588 Dec 20, 2016 (150)
60 SYSTEMSBIOZJU ss2625549924 Nov 08, 2017 (151)
61 GRF ss2705652516 Nov 08, 2017 (151)
62 GNOMAD ss2806111903 Nov 08, 2017 (151)
63 SWEGEN ss2994210585 Nov 08, 2017 (151)
64 BIOINF_KMB_FNS_UNIBA ss3024818082 Nov 08, 2017 (151)
65 CSHL ss3345565895 Nov 08, 2017 (151)
66 TOPMED ss3421426105 Nov 08, 2017 (151)
67 TOPMED ss3421426106 Nov 08, 2017 (151)
68 ILLUMINA ss3628910646 Oct 12, 2018 (152)
69 ILLUMINA ss3638473823 Oct 12, 2018 (152)
70 ILLUMINA ss3643426132 Oct 12, 2018 (152)
71 OMUKHERJEE_ADBS ss3646304944 Oct 12, 2018 (152)
72 URBANLAB ss3647662190 Oct 12, 2018 (152)
73 ILLUMINA ss3652834341 Oct 12, 2018 (152)
74 EGCUT_WGS ss3662118471 Jul 13, 2019 (153)
75 EVA_DECODE ss3711490438 Jul 13, 2019 (153)
76 ACPOP ss3730893933 Jul 13, 2019 (153)
77 EVA ss3761451307 Jul 13, 2019 (153)
78 PACBIO ss3784631144 Jul 13, 2019 (153)
79 PACBIO ss3790100225 Jul 13, 2019 (153)
80 PACBIO ss3794975279 Jul 13, 2019 (153)
81 KHV_HUMAN_GENOMES ss3804584905 Jul 13, 2019 (153)
82 EVA ss3828392012 Apr 26, 2020 (154)
83 EVA ss3837629602 Apr 26, 2020 (154)
84 EVA ss3843063788 Apr 26, 2020 (154)
85 SGDP_PRJ ss3858313595 Apr 26, 2020 (154)
86 KRGDB ss3904462941 Apr 26, 2020 (154)
87 KOGIC ss3953610703 Apr 26, 2020 (154)
88 FSA-LAB ss3984279476 Apr 26, 2021 (155)
89 FSA-LAB ss3984279477 Apr 26, 2021 (155)
90 EVA ss3985055020 Apr 26, 2021 (155)
91 EVA ss3986275371 Apr 26, 2021 (155)
92 TOPMED ss4604281956 Apr 26, 2021 (155)
93 TOMMO_GENOMICS ss5164392938 Apr 26, 2021 (155)
94 EVA ss5237181395 Apr 26, 2021 (155)
95 1000Genomes NC_000004.11 - 16024885 Oct 12, 2018 (152)
96 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 16024885 Oct 12, 2018 (152)
97 Genome-wide autozygosity in Daghestan NC_000004.10 - 15633983 Apr 26, 2020 (154)
98 Genetic variation in the Estonian population NC_000004.11 - 16024885 Oct 12, 2018 (152)
99 The Danish reference pan genome NC_000004.11 - 16024885 Apr 26, 2020 (154)
100 gnomAD - Genomes NC_000004.12 - 16023262 Apr 26, 2021 (155)
101 Genome of the Netherlands Release 5 NC_000004.11 - 16024885 Apr 26, 2020 (154)
102 HapMap NC_000004.12 - 16023262 Apr 26, 2020 (154)
103 KOREAN population from KRGDB NC_000004.11 - 16024885 Apr 26, 2020 (154)
104 Korean Genome Project NC_000004.12 - 16023262 Apr 26, 2020 (154)
105 Medical Genome Project healthy controls from Spanish population NC_000004.11 - 16024885 Apr 26, 2020 (154)
106 Northern Sweden NC_000004.11 - 16024885 Jul 13, 2019 (153)
107 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000004.11 - 16024885 Apr 26, 2021 (155)
108 Qatari NC_000004.11 - 16024885 Apr 26, 2020 (154)
109 SGDP_PRJ NC_000004.11 - 16024885 Apr 26, 2020 (154)
110 Siberian NC_000004.11 - 16024885 Apr 26, 2020 (154)
111 8.3KJPN NC_000004.11 - 16024885 Apr 26, 2021 (155)
112 TopMed NC_000004.12 - 16023262 Apr 26, 2021 (155)
113 UK 10K study - Twins NC_000004.11 - 16024885 Oct 12, 2018 (152)
114 A Vietnamese Genetic Variation Database NC_000004.11 - 16024885 Jul 13, 2019 (153)
115 ALFA NC_000004.12 - 16023262 Apr 26, 2021 (155)
116 ClinVar RCV000836687.1 Apr 26, 2020 (154)
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)
rs59587323 May 25, 2008 (130)
rs61198338 Feb 27, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77320457, ss78831547, ss84873755 NC_000004.9:15701153:A:G NC_000004.12:16023261:A:G (self)
343671, ss66100762, ss76067510, ss92485131, ss111849926, ss112950853, ss116888569, ss161930039, ss163140562, ss166215685, ss172385378, ss198108369, ss206361041, ss252958725, ss277591217, ss284854230, ss293294558, ss1397368044, ss1589299476, ss1712654430, ss3643426132 NC_000004.10:15633982:A:G NC_000004.12:16023261:A:G (self)
19956125, 11113408, 7856719, 6598225, 4890562, 11640335, 170413, 4178798, 280947, 5091154, 10330575, 2724634, 22362245, 11113408, 2428721, ss220765289, ss232276830, ss239593644, ss537022802, ss557338475, ss651103083, ss979810823, ss1071308047, ss1308602733, ss1429787786, ss1580433286, ss1609498118, ss1652492151, ss1711054653, ss1801062774, ss1923049224, ss1969669190, ss2022097829, ss2095142482, ss2150208280, ss2428252588, ss2625549924, ss2705652516, ss2806111903, ss2994210585, ss3345565895, ss3628910646, ss3638473823, ss3646304944, ss3652834341, ss3662118471, ss3730893933, ss3761451307, ss3784631144, ss3790100225, ss3794975279, ss3828392012, ss3837629602, ss3858313595, ss3904462941, ss3984279476, ss3984279477, ss3985055020, ss3986275371, ss5164392938 NC_000004.11:16024884:A:G NC_000004.12:16023261:A:G (self)
RCV000836687.1, 141452073, 2564400, 9988704, 276055210, 441659512, 15302739826, ss2260747290, ss3024818082, ss3421426105, ss3647662190, ss3711490438, ss3804584905, ss3843063788, ss3953610703, ss4604281956, ss5237181395 NC_000004.12:16023261:A:G NC_000004.12:16023261:A:G (self)
ss14627744, ss17042657, ss22185886 NT_006316.15:6700242:A:G NC_000004.12:16023261:A:G (self)
ss2859968, ss23711009, ss44542183, ss65758186, ss74855121, ss81657446, ss98805258, ss102645285, ss105808544, ss139464877, ss139753657, ss173044415 NT_006316.16:7206681:A:G NC_000004.12:16023261:A:G (self)
11640335, ss3904462941 NC_000004.11:16024884:A:T NC_000004.12:16023261:A:T (self)
15302739826, ss3421426106 NC_000004.12:16023261:A:T NC_000004.12:16023261:A: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 rs2013854

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.post596+ae089ad