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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs4955547

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:134616133 (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
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.379927 (100563/264690, TOPMED)
A=0.384228 (53815/140060, GnomAD)
A=0.18098 (5114/28258, 14KJPN) (+ 17 more)
A=0.39719 (9508/23938, ALFA)
A=0.17768 (2978/16760, 8.3KJPN)
A=0.3279 (2100/6404, 1000G_30x)
A=0.3225 (1615/5008, 1000G)
A=0.3500 (1568/4480, Estonian)
A=0.3744 (1443/3854, ALSPAC)
A=0.3724 (1381/3708, TWINSUK)
A=0.1126 (330/2930, KOREAN)
A=0.3348 (630/1882, HapMap)
A=0.3415 (388/1136, Daghestan)
A=0.350 (349/998, GoNL)
A=0.290 (174/600, NorthernSweden)
A=0.189 (96/508, SGDP_PRJ)
A=0.329 (71/216, Qatari)
A=0.095 (20/210, Vietnamese)
A=0.23 (12/52, Siberian)
A=0.47 (19/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CEP63 : Intron Variant
KY : 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 23938 A=0.39719 G=0.60281, T=0.00000
European Sub 15488 A=0.36900 G=0.63100, T=0.00000
African Sub 6312 A=0.4946 G=0.5054, T=0.0000
African Others Sub 214 A=0.556 G=0.444, T=0.000
African American Sub 6098 A=0.4925 G=0.5075, T=0.0000
Asian Sub 126 A=0.103 G=0.897, T=0.000
East Asian Sub 98 A=0.11 G=0.89, T=0.00
Other Asian Sub 28 A=0.07 G=0.93, T=0.00
Latin American 1 Sub 168 A=0.369 G=0.631, T=0.000
Latin American 2 Sub 670 A=0.245 G=0.755, T=0.000
South Asian Sub 100 A=0.30 G=0.70, T=0.00
Other Sub 1074 A=0.3743 G=0.6257, 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=0.379927 G=0.620073
gnomAD - Genomes Global Study-wide 140060 A=0.384228 G=0.615772
gnomAD - Genomes European Sub 75866 A=0.35712 G=0.64288
gnomAD - Genomes African Sub 41950 A=0.48267 G=0.51733
gnomAD - Genomes American Sub 13642 A=0.29285 G=0.70715
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.3995 G=0.6005
gnomAD - Genomes East Asian Sub 3130 A=0.1115 G=0.8885
gnomAD - Genomes Other Sub 2150 A=0.3735 G=0.6265
14KJPN JAPANESE Study-wide 28258 A=0.18098 G=0.81902
Allele Frequency Aggregator Total Global 23938 A=0.39719 G=0.60281, T=0.00000
Allele Frequency Aggregator European Sub 15488 A=0.36900 G=0.63100, T=0.00000
Allele Frequency Aggregator African Sub 6312 A=0.4946 G=0.5054, T=0.0000
Allele Frequency Aggregator Other Sub 1074 A=0.3743 G=0.6257, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 670 A=0.245 G=0.755, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 168 A=0.369 G=0.631, T=0.000
Allele Frequency Aggregator Asian Sub 126 A=0.103 G=0.897, T=0.000
Allele Frequency Aggregator South Asian Sub 100 A=0.30 G=0.70, T=0.00
8.3KJPN JAPANESE Study-wide 16760 A=0.17768 G=0.82232
1000Genomes_30x Global Study-wide 6404 A=0.3279 G=0.6721
1000Genomes_30x African Sub 1786 A=0.4933 G=0.5067
1000Genomes_30x Europe Sub 1266 A=0.3444 G=0.6556
1000Genomes_30x South Asian Sub 1202 A=0.3344 G=0.6656
1000Genomes_30x East Asian Sub 1170 A=0.1162 G=0.8838
1000Genomes_30x American Sub 980 A=0.250 G=0.750
1000Genomes Global Study-wide 5008 A=0.3225 G=0.6775
1000Genomes African Sub 1322 A=0.4902 G=0.5098
1000Genomes East Asian Sub 1008 A=0.1151 G=0.8849
1000Genomes Europe Sub 1006 A=0.3439 G=0.6561
1000Genomes South Asian Sub 978 A=0.335 G=0.665
1000Genomes American Sub 694 A=0.255 G=0.745
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.3500 G=0.6500
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.3744 G=0.6256
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.3724 G=0.6276
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.1126 C=0.0000, G=0.8874, T=0.0000
HapMap Global Study-wide 1882 A=0.3348 G=0.6652
HapMap American Sub 768 A=0.289 G=0.711
HapMap African Sub 688 A=0.449 G=0.551
HapMap Asian Sub 252 A=0.139 G=0.861
HapMap Europe Sub 174 A=0.368 G=0.632
Genome-wide autozygosity in Daghestan Global Study-wide 1136 A=0.3415 G=0.6585
Genome-wide autozygosity in Daghestan Daghestan Sub 628 A=0.366 G=0.634
Genome-wide autozygosity in Daghestan Near_East Sub 144 A=0.326 G=0.674
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.279 G=0.721
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.296 G=0.704
Genome-wide autozygosity in Daghestan South Asian Sub 98 A=0.36 G=0.64
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=0.28 G=0.72
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.350 G=0.650
Northern Sweden ACPOP Study-wide 600 A=0.290 G=0.710
SGDP_PRJ Global Study-wide 508 A=0.189 G=0.811
Qatari Global Study-wide 216 A=0.329 G=0.671
A Vietnamese Genetic Variation Database Global Study-wide 210 A=0.095 G=0.905
Siberian Global Study-wide 52 A=0.23 G=0.77
The Danish reference pan genome Danish Study-wide 40 A=0.47 G=0.53
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 3 NC_000003.12:g.134616133A>C
GRCh38.p14 chr 3 NC_000003.12:g.134616133A>G
GRCh38.p14 chr 3 NC_000003.12:g.134616133A>T
GRCh37.p13 chr 3 NC_000003.11:g.134334975A>C
GRCh37.p13 chr 3 NC_000003.11:g.134334975A>G
GRCh37.p13 chr 3 NC_000003.11:g.134334975A>T
KY RefSeqGene NG_054713.1:g.44921T>G
KY RefSeqGene NG_054713.1:g.44921T>C
KY RefSeqGene NG_054713.1:g.44921T>A
Gene: KY, kyphoscoliosis peptidase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
KY transcript variant 2 NM_001350859.2:c.662+3015…

NM_001350859.2:c.662+3015T>G

 		N/A Intron Variant
KY transcript variant 3 NM_001350860.2:c.584+3015…

NM_001350860.2:c.584+3015T>G

 		N/A Intron Variant
KY transcript variant 4 NM_001366276.1:c.647+3015…

NM_001366276.1:c.647+3015T>G

 		N/A Intron Variant
KY transcript variant 5 NM_001366277.2:c.710+3015…

NM_001366277.2:c.710+3015T>G

 		N/A Intron Variant
KY transcript variant 1 NM_178554.6:c.710+3015T>G N/A Intron Variant
Gene: CEP63, centrosomal protein 63 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CEP63 transcript variant 3 NM_001042383.2:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant 4 NM_001042384.2:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant 2 NM_001042400.3:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant 5 NM_001353108.3:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant 6 NM_001353109.1:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant 7 NM_001353110.1:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant 8 NM_001353111.2:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant 9 NM_001353112.2:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant 10 NM_001353113.1:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant 11 NM_001353117.2:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant 12 NM_001353118.1:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant 13 NM_001353119.2:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant 14 NM_001353120.2:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant 15 NM_001353121.2:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant 16 NM_001353122.1:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant 18 NM_001353123.2:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant 17 NM_001353124.2:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant 19 NM_001353125.2:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant 20 NM_001353126.2:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant 1 NM_025180.5:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant 21 NR_148352.2:n. N/A Genic Downstream Transcript Variant
CEP63 transcript variant 22 NR_148353.2:n. N/A Genic Downstream Transcript Variant
CEP63 transcript variant 23 NR_148354.2:n. N/A Genic Downstream Transcript Variant
CEP63 transcript variant 24 NR_148355.1:n. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X2 XM_005247795.6:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X4 XM_005247797.4:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X3 XM_006713760.5:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X10 XM_017007247.3:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X11 XM_017007248.3:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X12 XM_017007249.2:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X1 XM_024453768.2:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X6 XM_024453769.2:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X7 XM_024453771.2:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X13 XM_024453772.2:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X28 XM_024453777.2:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X37 XM_024453778.2:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X5 XM_047448996.1:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X8 XM_047448998.1:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X9 XM_047448999.1:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X14 XM_047449000.1:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X15 XM_047449001.1:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X16 XM_047449002.1:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X17 XM_047449003.1:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X18 XM_047449005.1:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X19 XM_047449006.1:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X20 XM_047449007.1:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X21 XM_047449008.1:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X22 XM_047449009.1:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X23 XM_047449010.1:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X24 XM_047449011.1:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X31 XM_047449013.1:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X32 XM_047449014.1:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X33 XM_047449015.1:c. N/A Genic Downstream Transcript Variant
CEP63 transcript variant X35 XR_002959589.2:n. N/A Intron Variant
CEP63 transcript variant X25 XR_007095729.1:n. N/A Intron Variant
CEP63 transcript variant X26 XR_007095730.1:n. N/A Intron Variant
CEP63 transcript variant X27 XR_007095731.1:n. N/A Intron Variant
CEP63 transcript variant X29 XR_007095732.1:n. N/A Intron Variant
CEP63 transcript variant X30 XR_007095733.1:n. N/A Intron Variant
CEP63 transcript variant X34 XR_007095734.1:n. N/A Intron Variant
CEP63 transcript variant X36 XR_007095735.1:n. 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 A= C G T
GRCh38.p14 chr 3 NC_000003.12:g.134616133= NC_000003.12:g.134616133A>C NC_000003.12:g.134616133A>G NC_000003.12:g.134616133A>T
GRCh37.p13 chr 3 NC_000003.11:g.134334975= NC_000003.11:g.134334975A>C NC_000003.11:g.134334975A>G NC_000003.11:g.134334975A>T
KY RefSeqGene NG_054713.1:g.44921= NG_054713.1:g.44921T>G NG_054713.1:g.44921T>C NG_054713.1:g.44921T>A
KY transcript variant 2 NM_001350859.2:c.662+3015= NM_001350859.2:c.662+3015T>G NM_001350859.2:c.662+3015T>C NM_001350859.2:c.662+3015T>A
KY transcript variant 3 NM_001350860.2:c.584+3015= NM_001350860.2:c.584+3015T>G NM_001350860.2:c.584+3015T>C NM_001350860.2:c.584+3015T>A
KY transcript variant 4 NM_001366276.1:c.647+3015= NM_001366276.1:c.647+3015T>G NM_001366276.1:c.647+3015T>C NM_001366276.1:c.647+3015T>A
KY transcript variant 5 NM_001366277.2:c.710+3015= NM_001366277.2:c.710+3015T>G NM_001366277.2:c.710+3015T>C NM_001366277.2:c.710+3015T>A
KY transcript NM_178554.4:c.710+3015= NM_178554.4:c.710+3015T>G NM_178554.4:c.710+3015T>C NM_178554.4:c.710+3015T>A
KY transcript variant 1 NM_178554.6:c.710+3015= NM_178554.6:c.710+3015T>G NM_178554.6:c.710+3015T>C NM_178554.6:c.710+3015T>A
KY transcript variant X1 XM_005247417.1:c.833+3015= XM_005247417.1:c.833+3015T>G XM_005247417.1:c.833+3015T>C XM_005247417.1:c.833+3015T>A
KY transcript variant X2 XM_005247418.1:c.824+3015= XM_005247418.1:c.824+3015T>G XM_005247418.1:c.824+3015T>C XM_005247418.1:c.824+3015T>A
KY transcript variant X3 XM_005247419.1:c.662+3015= XM_005247419.1:c.662+3015T>G XM_005247419.1:c.662+3015T>C XM_005247419.1:c.662+3015T>A
KY transcript variant X4 XM_005247420.1:c.887+3015= XM_005247420.1:c.887+3015T>G XM_005247420.1:c.887+3015T>C XM_005247420.1:c.887+3015T>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#.

87 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss6857209 Feb 20, 2003 (111)
2 WI_SSAHASNP ss11597661 Jul 11, 2003 (116)
3 BCM_SSAHASNP ss14223601 Dec 05, 2003 (119)
4 CSHL-HAPMAP ss16976802 Feb 27, 2004 (120)
5 PERLEGEN ss24647784 Sep 20, 2004 (123)
6 ILLUMINA ss65770538 Oct 13, 2006 (127)
7 PERLEGEN ss68876037 May 16, 2007 (127)
8 ILLUMINA ss74855115 Dec 06, 2007 (129)
9 HGSV ss78416533 Dec 06, 2007 (129)
10 HGSV ss79033741 Dec 06, 2007 (129)
11 HGSV ss85518107 Dec 14, 2007 (130)
12 BGI ss106299257 Feb 04, 2009 (130)
13 1000GENOMES ss110968681 Jan 25, 2009 (130)
14 1000GENOMES ss112486631 Jan 25, 2009 (130)
15 ILLUMINA-UK ss117283079 Feb 14, 2009 (130)
16 KRIBB_YJKIM ss119495809 Dec 01, 2009 (131)
17 GMI ss156223669 Dec 01, 2009 (131)
18 ENSEMBL ss161393306 Dec 01, 2009 (131)
19 COMPLETE_GENOMICS ss162630228 Jul 04, 2010 (132)
20 COMPLETE_GENOMICS ss164332097 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss167213782 Jul 04, 2010 (132)
22 ILLUMINA ss173890570 Jul 04, 2010 (132)
23 BUSHMAN ss203212835 Jul 04, 2010 (132)
24 BCM-HGSC-SUB ss206010708 Jul 04, 2010 (132)
25 1000GENOMES ss220440966 Jul 14, 2010 (132)
26 1000GENOMES ss232042277 Jul 14, 2010 (132)
27 1000GENOMES ss239412140 Jul 15, 2010 (132)
28 BL ss253517006 May 09, 2011 (134)
29 GMI ss277360670 May 04, 2012 (137)
30 GMI ss284752815 Apr 25, 2013 (138)
31 PJP ss292918636 May 09, 2011 (134)
32 ILLUMINA ss537298670 Sep 08, 2015 (146)
33 TISHKOFF ss556960630 Apr 25, 2013 (138)
34 SSMP ss650684369 Apr 25, 2013 (138)
35 EVA-GONL ss979187976 Aug 21, 2014 (142)
36 JMKIDD_LAB ss1070850343 Aug 21, 2014 (142)
37 1000GENOMES ss1306257413 Aug 21, 2014 (142)
38 HAMMER_LAB ss1397352444 Sep 08, 2015 (146)
39 DDI ss1429596733 Apr 01, 2015 (144)
40 EVA_GENOME_DK ss1580192382 Apr 01, 2015 (144)
41 EVA_DECODE ss1588673844 Apr 01, 2015 (144)
42 EVA_UK10K_ALSPAC ss1608265946 Apr 01, 2015 (144)
43 EVA_UK10K_TWINSUK ss1651259979 Apr 01, 2015 (144)
44 EVA_SVP ss1712614260 Apr 01, 2015 (144)
45 HAMMER_LAB ss1800068165 Sep 08, 2015 (146)
46 WEILL_CORNELL_DGM ss1922415155 Feb 12, 2016 (147)
47 GENOMED ss1969528998 Jul 19, 2016 (147)
48 JJLAB ss2021776360 Sep 14, 2016 (149)
49 USC_VALOUEV ss2149871051 Dec 20, 2016 (150)
50 HUMAN_LONGEVITY ss2256024028 Dec 20, 2016 (150)
51 SYSTEMSBIOZJU ss2625390758 Nov 08, 2017 (151)
52 GRF ss2705281439 Nov 08, 2017 (151)
53 GNOMAD ss2799407183 Nov 08, 2017 (151)
54 SWEGEN ss2993238600 Nov 08, 2017 (151)
55 BIOINF_KMB_FNS_UNIBA ss3024654996 Nov 08, 2017 (151)
56 CSHL ss3345279021 Nov 08, 2017 (151)
57 ILLUMINA ss3628782410 Oct 12, 2018 (152)
58 ILLUMINA ss3638443358 Oct 12, 2018 (152)
59 ILLUMINA ss3643398108 Oct 12, 2018 (152)
60 EGCUT_WGS ss3661157530 Jul 13, 2019 (153)
61 EVA_DECODE ss3710339629 Jul 13, 2019 (153)
62 ACPOP ss3730373710 Jul 13, 2019 (153)
63 EVA ss3760724520 Jul 13, 2019 (153)
64 PACBIO ss3784471740 Jul 13, 2019 (153)
65 PACBIO ss3789964630 Jul 13, 2019 (153)
66 PACBIO ss3794839224 Jul 13, 2019 (153)
67 KHV_HUMAN_GENOMES ss3803858541 Jul 13, 2019 (153)
68 EVA ss3828088161 Apr 25, 2020 (154)
69 EVA ss3837475865 Apr 25, 2020 (154)
70 EVA ss3842906588 Apr 25, 2020 (154)
71 SGDP_PRJ ss3857024355 Apr 25, 2020 (154)
72 KRGDB ss3903044377 Apr 25, 2020 (154)
73 TOPMED ss4584465053 Apr 26, 2021 (155)
74 TOMMO_GENOMICS ss5161698461 Apr 26, 2021 (155)
75 1000G_HIGH_COVERAGE ss5256114145 Oct 12, 2022 (156)
76 EVA ss5343425613 Oct 12, 2022 (156)
77 HUGCELL_USP ss5455244634 Oct 12, 2022 (156)
78 EVA ss5507212707 Oct 12, 2022 (156)
79 1000G_HIGH_COVERAGE ss5535597264 Oct 12, 2022 (156)
80 SANFORD_IMAGENETICS ss5633241753 Oct 12, 2022 (156)
81 TOMMO_GENOMICS ss5694610396 Oct 12, 2022 (156)
82 YY_MCH ss5804269258 Oct 12, 2022 (156)
83 EVA ss5826516106 Oct 12, 2022 (156)
84 EVA ss5853849271 Oct 12, 2022 (156)
85 EVA ss5871101705 Oct 12, 2022 (156)
86 EVA ss5961591944 Oct 12, 2022 (156)
87 EVA ss5980175514 Oct 12, 2022 (156)
88 1000Genomes NC_000003.11 - 134334975 Oct 12, 2018 (152)
89 1000Genomes_30x NC_000003.12 - 134616133 Oct 12, 2022 (156)
90 The Avon Longitudinal Study of Parents and Children NC_000003.11 - 134334975 Oct 12, 2018 (152)
91 Genome-wide autozygosity in Daghestan NC_000003.10 - 135817665 Apr 25, 2020 (154)
92 Genetic variation in the Estonian population NC_000003.11 - 134334975 Oct 12, 2018 (152)
93 The Danish reference pan genome NC_000003.11 - 134334975 Apr 25, 2020 (154)
94 gnomAD - Genomes NC_000003.12 - 134616133 Apr 26, 2021 (155)
95 Genome of the Netherlands Release 5 NC_000003.11 - 134334975 Apr 25, 2020 (154)
96 HapMap NC_000003.12 - 134616133 Apr 25, 2020 (154)
97 KOREAN population from KRGDB NC_000003.11 - 134334975 Apr 25, 2020 (154)
98 Northern Sweden NC_000003.11 - 134334975 Jul 13, 2019 (153)
99 Qatari NC_000003.11 - 134334975 Apr 25, 2020 (154)
100 SGDP_PRJ NC_000003.11 - 134334975 Apr 25, 2020 (154)
101 Siberian NC_000003.11 - 134334975 Apr 25, 2020 (154)
102 8.3KJPN NC_000003.11 - 134334975 Apr 26, 2021 (155)
103 14KJPN NC_000003.12 - 134616133 Oct 12, 2022 (156)
104 TopMed NC_000003.12 - 134616133 Apr 26, 2021 (155)
105 UK 10K study - Twins NC_000003.11 - 134334975 Oct 12, 2018 (152)
106 A Vietnamese Genetic Variation Database NC_000003.11 - 134334975 Jul 13, 2019 (153)
107 ALFA NC_000003.12 - 134616133 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)
rs17387767 Oct 07, 2004 (123)
rs57670055 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
10221771, ss3903044377 NC_000003.11:134334974:A:C NC_000003.12:134616132:A:C (self)
ss78416533, ss79033741, ss85518107 NC_000003.9:135817672:A:G NC_000003.12:134616132:A:G (self)
328257, ss110968681, ss112486631, ss117283079, ss162630228, ss164332097, ss167213782, ss203212835, ss206010708, ss253517006, ss277360670, ss284752815, ss292918636, ss1397352444, ss1588673844, ss1712614260, ss3643398108 NC_000003.10:135817664:A:G NC_000003.12:134616132:A:G (self)
17523716, 9759258, 6895778, 6357321, 4288907, 10221771, 3658575, 4457085, 9041335, 2387405, 19667768, 9759258, 2128607, ss220440966, ss232042277, ss239412140, ss537298670, ss556960630, ss650684369, ss979187976, ss1070850343, ss1306257413, ss1429596733, ss1580192382, ss1608265946, ss1651259979, ss1800068165, ss1922415155, ss1969528998, ss2021776360, ss2149871051, ss2625390758, ss2705281439, ss2799407183, ss2993238600, ss3345279021, ss3628782410, ss3638443358, ss3661157530, ss3730373710, ss3760724520, ss3784471740, ss3789964630, ss3794839224, ss3828088161, ss3837475865, ss3857024355, ss3903044377, ss5161698461, ss5343425613, ss5507212707, ss5633241753, ss5826516106, ss5961591944, ss5980175514 NC_000003.11:134334974:A:G NC_000003.12:134616132:A:G (self)
23123199, 124506054, 2463206, 28447500, 421842608, 7197250106, ss2256024028, ss3024654996, ss3710339629, ss3803858541, ss3842906588, ss4584465053, ss5256114145, ss5455244634, ss5535597264, ss5694610396, ss5804269258, ss5853849271, ss5871101705 NC_000003.12:134616132:A:G NC_000003.12:134616132:A:G (self)
ss11597661 NT_005612.13:40734510:A:G NC_000003.12:134616132:A:G (self)
ss14223601, ss16976802 NT_005612.14:40830128:A:G NC_000003.12:134616132:A:G (self)
ss6857209, ss24647784, ss65770538, ss68876037, ss74855115, ss106299257, ss119495809, ss156223669, ss161393306, ss173890570 NT_005612.16:40830120:A:G NC_000003.12:134616132:A:G (self)
10221771, ss3903044377 NC_000003.11:134334974:A:T NC_000003.12:134616132:A:T (self)
7197250106 NC_000003.12:134616132:A:T NC_000003.12:134616132: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 rs4955547

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