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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.

rs631357

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:20666326 (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
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.231890 (61379/264690, TOPMED)
G=0.248320 (62443/251462, GnomAD_exome)
G=0.222588 (31189/140120, GnomAD) (+ 21 more)
G=0.247747 (30071/121378, ExAC)
G=0.208681 (21629/103646, ALFA)
G=0.28366 (22315/78668, PAGE_STUDY)
G=0.46318 (7761/16756, 8.3KJPN)
G=0.20975 (2728/13006, GO-ESP)
G=0.2955 (1480/5008, 1000G)
G=0.2196 (984/4480, Estonian)
G=0.2055 (792/3854, ALSPAC)
G=0.1877 (696/3708, TWINSUK)
G=0.4601 (1348/2930, KOREAN)
G=0.197 (197/998, GoNL)
G=0.445 (339/762, PRJEB37584)
G=0.461 (280/608, Vietnamese)
G=0.203 (122/600, NorthernSweden)
G=0.187 (100/534, MGP)
G=0.225 (114/506, SGDP_PRJ)
G=0.309 (97/314, HapMap)
G=0.184 (56/304, FINRISK)
G=0.144 (31/216, Qatari)
G=0.22 (11/50, Siberian)
G=0.15 (6/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
KIF17 : Missense Variant
Publications
1 citation
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 1 NC_000001.11:g.20666326G>A
GRCh38.p13 chr 1 NC_000001.11:g.20666326G>C
GRCh37.p13 chr 1 NC_000001.10:g.20992819G>A
GRCh37.p13 chr 1 NC_000001.10:g.20992819G>C
DDOST RefSeqGene NG_032064.1:g.219C>T
DDOST RefSeqGene NG_032064.1:g.219C>G
Gene: KIF17, kinesin family member 17 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
KIF17 transcript variant 2 NM_001122819.3:c.2796C>T D [GAC] > D [GAT] Coding Sequence Variant
kinesin-like protein KIF17 isoform b NP_001116291.1:p.Asp932= D (Asp) > D (Asp) Synonymous Variant
KIF17 transcript variant 2 NM_001122819.3:c.2796C>G D [GAC] > E [GAG] Coding Sequence Variant
kinesin-like protein KIF17 isoform b NP_001116291.1:p.Asp932Glu D (Asp) > E (Glu) Missense Variant
KIF17 transcript variant 3 NM_001287212.2:c.2499C>T D [GAC] > D [GAT] Coding Sequence Variant
kinesin-like protein KIF17 isoform c NP_001274141.1:p.Asp833= D (Asp) > D (Asp) Synonymous Variant
KIF17 transcript variant 3 NM_001287212.2:c.2499C>G D [GAC] > E [GAG] Coding Sequence Variant
kinesin-like protein KIF17 isoform c NP_001274141.1:p.Asp833Glu D (Asp) > E (Glu) Missense Variant
KIF17 transcript variant 1 NM_020816.4:c.2799C>T D [GAC] > D [GAT] Coding Sequence Variant
kinesin-like protein KIF17 isoform a NP_065867.2:p.Asp933= D (Asp) > D (Asp) Synonymous Variant
KIF17 transcript variant 1 NM_020816.4:c.2799C>G D [GAC] > E [GAG] Coding Sequence Variant
kinesin-like protein KIF17 isoform a NP_065867.2:p.Asp933Glu D (Asp) > E (Glu) Missense 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

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 103646 G=0.208681 A=0.000000, C=0.791319
European Sub 89754 G=0.19575 A=0.00000, C=0.80425
African Sub 1766 G=0.3063 A=0.0000, C=0.6937
African Others Sub 74 G=0.38 A=0.00, C=0.62
African American Sub 1692 G=0.3032 A=0.0000, C=0.6968
Asian Sub 3226 G=0.4715 A=0.0000, C=0.5285
East Asian Sub 2590 G=0.4857 A=0.0000, C=0.5143
Other Asian Sub 636 G=0.414 A=0.000, C=0.586
Latin American 1 Sub 648 G=0.187 A=0.000, C=0.813
Latin American 2 Sub 408 G=0.380 A=0.000, C=0.620
South Asian Sub 206 G=0.427 A=0.000, C=0.573
Other Sub 7638 G=0.2139 A=0.0000, C=0.7861


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.231890 C=0.768110
gnomAD - Exomes Global Study-wide 251462 G=0.248320 C=0.751680
gnomAD - Exomes European Sub 135386 G=0.198359 C=0.801641
gnomAD - Exomes Asian Sub 49010 G=0.37719 C=0.62281
gnomAD - Exomes American Sub 34592 G=0.29917 C=0.70083
gnomAD - Exomes African Sub 16254 G=0.23834 C=0.76166
gnomAD - Exomes Ashkenazi Jewish Sub 10080 G=0.15317 C=0.84683
gnomAD - Exomes Other Sub 6140 G=0.2174 C=0.7826
gnomAD - Genomes Global Study-wide 140120 G=0.222588 C=0.777412
gnomAD - Genomes European Sub 75890 G=0.19804 C=0.80196
gnomAD - Genomes African Sub 41984 G=0.24093 C=0.75907
gnomAD - Genomes American Sub 13650 G=0.26484 C=0.73516
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.1546 C=0.8454
gnomAD - Genomes East Asian Sub 3118 G=0.4564 C=0.5436
gnomAD - Genomes Other Sub 2154 G=0.2289 C=0.7711
ExAC Global Study-wide 121378 G=0.247747 C=0.752253
ExAC Europe Sub 73348 G=0.19692 C=0.80308
ExAC Asian Sub 25142 G=0.37821 C=0.62179
ExAC American Sub 11574 G=0.29635 C=0.70365
ExAC African Sub 10406 G=0.23909 C=0.76091
ExAC Other Sub 908 G=0.220 C=0.780
Allele Frequency Aggregator Total Global 103646 G=0.208681 A=0.000000, C=0.791319
Allele Frequency Aggregator European Sub 89754 G=0.19575 A=0.00000, C=0.80425
Allele Frequency Aggregator Other Sub 7638 G=0.2139 A=0.0000, C=0.7861
Allele Frequency Aggregator Asian Sub 3226 G=0.4715 A=0.0000, C=0.5285
Allele Frequency Aggregator African Sub 1766 G=0.3063 A=0.0000, C=0.6937
Allele Frequency Aggregator Latin American 1 Sub 648 G=0.187 A=0.000, C=0.813
Allele Frequency Aggregator Latin American 2 Sub 408 G=0.380 A=0.000, C=0.620
Allele Frequency Aggregator South Asian Sub 206 G=0.427 A=0.000, C=0.573
The PAGE Study Global Study-wide 78668 G=0.28366 C=0.71634
The PAGE Study AfricanAmerican Sub 32498 G=0.23789 C=0.76211
The PAGE Study Mexican Sub 10808 G=0.28877 C=0.71123
The PAGE Study Asian Sub 8314 G=0.4882 C=0.5118
The PAGE Study PuertoRican Sub 7916 G=0.2129 C=0.7871
The PAGE Study NativeHawaiian Sub 4532 G=0.4841 C=0.5159
The PAGE Study Cuban Sub 4228 G=0.1980 C=0.8020
The PAGE Study Dominican Sub 3826 G=0.2185 C=0.7815
The PAGE Study CentralAmerican Sub 2450 G=0.2727 C=0.7273
The PAGE Study SouthAmerican Sub 1980 G=0.2924 C=0.7076
The PAGE Study NativeAmerican Sub 1260 G=0.2437 C=0.7563
The PAGE Study SouthAsian Sub 856 G=0.348 C=0.652
8.3KJPN JAPANESE Study-wide 16756 G=0.46318 C=0.53682
GO Exome Sequencing Project Global Study-wide 13006 G=0.20975 C=0.79025
GO Exome Sequencing Project European American Sub 8600 G=0.1947 C=0.8053
GO Exome Sequencing Project African American Sub 4406 G=0.2392 C=0.7608
1000Genomes Global Study-wide 5008 G=0.2955 C=0.7045
1000Genomes African Sub 1322 G=0.2428 C=0.7572
1000Genomes East Asian Sub 1008 G=0.4464 C=0.5536
1000Genomes Europe Sub 1006 G=0.1759 C=0.8241
1000Genomes South Asian Sub 978 G=0.364 C=0.636
1000Genomes American Sub 694 G=0.254 C=0.746
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.2196 C=0.7804
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.2055 C=0.7945
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.1877 C=0.8123
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.4601 A=0.0000, C=0.5399
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.197 C=0.803
CNV burdens in cranial meningiomas Global Study-wide 762 G=0.445 C=0.555
CNV burdens in cranial meningiomas CRM Sub 762 G=0.445 C=0.555
A Vietnamese Genetic Variation Database Global Study-wide 608 G=0.461 C=0.539
Northern Sweden ACPOP Study-wide 600 G=0.203 C=0.797
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.187 C=0.813
SGDP_PRJ Global Study-wide 506 G=0.225 C=0.775
HapMap Global Study-wide 314 G=0.309 C=0.691
HapMap African Sub 116 G=0.328 C=0.672
HapMap American Sub 108 G=0.231 C=0.769
HapMap Asian Sub 90 G=0.38 C=0.62
FINRISK Finnish from FINRISK project Study-wide 304 G=0.184 C=0.816
Qatari Global Study-wide 216 G=0.144 C=0.856
Siberian Global Study-wide 50 G=0.22 C=0.78
The Danish reference pan genome Danish Study-wide 40 G=0.15 C=0.85
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
GRCh38.p13 chr 1 NC_000001.11:g.20666326= NC_000001.11:g.20666326G>A NC_000001.11:g.20666326G>C
GRCh37.p13 chr 1 NC_000001.10:g.20992819= NC_000001.10:g.20992819G>A NC_000001.10:g.20992819G>C
DDOST RefSeqGene NG_032064.1:g.219= NG_032064.1:g.219C>T NG_032064.1:g.219C>G
KIF17 transcript variant 1 NM_020816.4:c.2799= NM_020816.4:c.2799C>T NM_020816.4:c.2799C>G
KIF17 transcript variant 1 NM_020816.3:c.2799= NM_020816.3:c.2799C>T NM_020816.3:c.2799C>G
KIF17 transcript variant 1 NM_020816.2:c.2799= NM_020816.2:c.2799C>T NM_020816.2:c.2799C>G
KIF17 transcript variant 2 NM_001122819.3:c.2796= NM_001122819.3:c.2796C>T NM_001122819.3:c.2796C>G
KIF17 transcript variant 2 NM_001122819.2:c.2796= NM_001122819.2:c.2796C>T NM_001122819.2:c.2796C>G
KIF17 transcript variant 2 NM_001122819.1:c.2796= NM_001122819.1:c.2796C>T NM_001122819.1:c.2796C>G
KIF17 transcript variant 3 NM_001287212.2:c.2499= NM_001287212.2:c.2499C>T NM_001287212.2:c.2499C>G
KIF17 transcript variant 3 NM_001287212.1:c.2499= NM_001287212.1:c.2499C>T NM_001287212.1:c.2499C>G
kinesin-like protein KIF17 isoform a NP_065867.2:p.Asp933= NP_065867.2:p.Asp933= NP_065867.2:p.Asp933Glu
kinesin-like protein KIF17 isoform b NP_001116291.1:p.Asp932= NP_001116291.1:p.Asp932= NP_001116291.1:p.Asp932Glu
kinesin-like protein KIF17 isoform c NP_001274141.1:p.Asp833= NP_001274141.1:p.Asp833= NP_001274141.1:p.Asp833Glu
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#.

151 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss803940 Aug 11, 2000 (83)
2 KWOK ss1081382 Oct 04, 2000 (86)
3 KWOK ss1082115 Oct 04, 2000 (86)
4 KWOK ss1082325 Oct 04, 2000 (86)
5 KWOK ss1082671 Oct 04, 2000 (86)
6 KWOK ss1908666 Oct 18, 2000 (87)
7 KWOK ss1908813 Oct 18, 2000 (87)
8 KWOK ss1909172 Oct 18, 2000 (87)
9 KWOK ss1909427 Oct 18, 2000 (87)
10 KWOK ss1909591 Oct 18, 2000 (87)
11 KWOK ss1909644 Oct 18, 2000 (87)
12 TSC-CSHL ss2399725 Oct 23, 2000 (88)
13 YUSUKE ss3240256 Sep 28, 2001 (100)
14 WI_SSAHASNP ss11366097 Jul 11, 2003 (116)
15 SC_SNP ss13005281 Dec 05, 2003 (119)
16 SC_SNP ss15414516 Feb 27, 2004 (120)
17 SSAHASNP ss20450064 Apr 05, 2004 (121)
18 PERLEGEN ss23842786 Sep 20, 2004 (123)
19 MGC_GENOME_DIFF ss28498582 Sep 24, 2004 (126)
20 MGC_GENOME_DIFF ss28513514 Sep 24, 2004 (126)
21 ABI ss44111265 Mar 11, 2006 (126)
22 APPLERA_GI ss48429794 Mar 11, 2006 (126)
23 CSHL-HAPMAP ss68427406 Jan 12, 2007 (127)
24 PERLEGEN ss68760832 May 18, 2007 (127)
25 SI_EXO ss71642559 May 18, 2007 (127)
26 BCMHGSC_JDW ss87283676 Mar 23, 2008 (129)
27 HUMANGENOME_JCVI ss97923830 Feb 04, 2009 (130)
28 BGI ss105129431 Dec 01, 2009 (131)
29 1000GENOMES ss110155903 Jan 24, 2009 (130)
30 ILLUMINA-UK ss118550133 Feb 14, 2009 (130)
31 ENSEMBL ss137834632 Dec 01, 2009 (131)
32 ENSEMBL ss139082644 Dec 01, 2009 (131)
33 ILLUMINA ss152536365 Dec 01, 2009 (131)
34 GMI ss154739030 Dec 01, 2009 (131)
35 ILLUMINA ss159102629 Dec 01, 2009 (131)
36 SEATTLESEQ ss159696539 Dec 01, 2009 (131)
37 ILLUMINA ss160770165 Dec 01, 2009 (131)
38 COMPLETE_GENOMICS ss163157273 Jul 04, 2010 (132)
39 COMPLETE_GENOMICS ss163941095 Jul 04, 2010 (132)
40 COMPLETE_GENOMICS ss166209197 Jul 04, 2010 (132)
41 ILLUMINA ss168870856 Jul 04, 2010 (132)
42 BUSHMAN ss198136381 Jul 04, 2010 (132)
43 BCM-HGSC-SUB ss205210379 Jul 04, 2010 (132)
44 1000GENOMES ss210448152 Jul 14, 2010 (132)
45 1000GENOMES ss217314466 Jul 14, 2010 (132)
46 1000GENOMES ss217390924 Jul 14, 2010 (132)
47 1000GENOMES ss217392168 Jul 14, 2010 (132)
48 1000GENOMES ss217400064 Jul 14, 2010 (132)
49 1000GENOMES ss217405963 Jul 14, 2010 (132)
50 1000GENOMES ss217410593 Jul 14, 2010 (132)
51 1000GENOMES ss217411103 Jul 14, 2010 (132)
52 1000GENOMES ss218273869 Jul 14, 2010 (132)
53 1000GENOMES ss230455001 Jul 14, 2010 (132)
54 1000GENOMES ss238164606 Jul 15, 2010 (132)
55 BL ss252968591 May 09, 2011 (134)
56 GMI ss275745679 May 04, 2012 (137)
57 GMI ss284015054 Apr 25, 2013 (138)
58 PJP ss290782212 May 09, 2011 (134)
59 NHLBI-ESP ss341941778 May 09, 2011 (134)
60 ILLUMINA ss482215382 May 04, 2012 (137)
61 ILLUMINA ss482240320 Sep 08, 2015 (146)
62 ILLUMINA ss483098235 May 04, 2012 (137)
63 1000GENOMES ss489726599 May 04, 2012 (137)
64 EXOME_CHIP ss491288469 May 04, 2012 (137)
65 CLINSEQ_SNP ss491587953 May 04, 2012 (137)
66 ILLUMINA ss535276633 Sep 08, 2015 (146)
67 TISHKOFF ss553870837 Apr 25, 2013 (138)
68 SSMP ss647627441 Apr 25, 2013 (138)
69 ILLUMINA ss779497571 Sep 08, 2015 (146)
70 ILLUMINA ss780811341 Sep 08, 2015 (146)
71 ILLUMINA ss781992469 Sep 08, 2015 (146)
72 ILLUMINA ss783493223 Sep 08, 2015 (146)
73 ILLUMINA ss832615425 Jul 12, 2019 (153)
74 ILLUMINA ss834967772 Sep 08, 2015 (146)
75 JMKIDD_LAB ss974433766 Aug 21, 2014 (142)
76 EVA-GONL ss974926811 Aug 21, 2014 (142)
77 JMKIDD_LAB ss1067417579 Aug 21, 2014 (142)
78 JMKIDD_LAB ss1067721461 Aug 21, 2014 (142)
79 1000GENOMES ss1289960343 Aug 21, 2014 (142)
80 DDI ss1425739106 Apr 01, 2015 (144)
81 EVA_GENOME_DK ss1573929353 Apr 01, 2015 (144)
82 EVA_FINRISK ss1584005578 Apr 01, 2015 (144)
83 EVA_DECODE ss1584285053 Apr 01, 2015 (144)
84 EVA_UK10K_ALSPAC ss1599688076 Apr 01, 2015 (144)
85 EVA_UK10K_TWINSUK ss1642682109 Apr 01, 2015 (144)
86 EVA_EXAC ss1685368239 Apr 01, 2015 (144)
87 EVA_MGP ss1710893835 Apr 01, 2015 (144)
88 ILLUMINA ss1751895863 Sep 08, 2015 (146)
89 HAMMER_LAB ss1794032403 Sep 08, 2015 (146)
90 ILLUMINA ss1917724210 Feb 12, 2016 (147)
91 WEILL_CORNELL_DGM ss1918138596 Feb 12, 2016 (147)
92 ILLUMINA ss1945987329 Feb 12, 2016 (147)
93 ILLUMINA ss1958250510 Feb 12, 2016 (147)
94 GENOMED ss1966701072 Jul 19, 2016 (147)
95 JJLAB ss2019581122 Sep 14, 2016 (149)
96 USC_VALOUEV ss2147584789 Dec 20, 2016 (150)
97 HUMAN_LONGEVITY ss2160571190 Dec 20, 2016 (150)
98 TOPMED ss2322753435 Dec 20, 2016 (150)
99 SYSTEMSBIOZJU ss2624307033 Nov 08, 2017 (151)
100 ILLUMINA ss2632487407 Nov 08, 2017 (151)
101 GRF ss2697489436 Nov 08, 2017 (151)
102 GNOMAD ss2731218431 Nov 08, 2017 (151)
103 GNOMAD ss2746248111 Nov 08, 2017 (151)
104 GNOMAD ss2752446147 Nov 08, 2017 (151)
105 AFFY ss2984848596 Nov 08, 2017 (151)
106 SWEGEN ss2986433914 Nov 08, 2017 (151)
107 ILLUMINA ss3021063945 Nov 08, 2017 (151)
108 BIOINF_KMB_FNS_UNIBA ss3023555904 Nov 08, 2017 (151)
109 TOPMED ss3070421330 Nov 08, 2017 (151)
110 TOPMED ss3070421331 Nov 08, 2017 (151)
111 CSHL ss3343358223 Nov 08, 2017 (151)
112 ILLUMINA ss3626043813 Oct 11, 2018 (152)
113 ILLUMINA ss3626043814 Oct 11, 2018 (152)
114 ILLUMINA ss3630525193 Oct 11, 2018 (152)
115 ILLUMINA ss3634311407 Oct 11, 2018 (152)
116 ILLUMINA ss3635987644 Oct 11, 2018 (152)
117 ILLUMINA ss3637741839 Oct 11, 2018 (152)
118 ILLUMINA ss3640018771 Oct 11, 2018 (152)
119 ILLUMINA ss3644483188 Oct 11, 2018 (152)
120 OMUKHERJEE_ADBS ss3646226209 Oct 11, 2018 (152)
121 URBANLAB ss3646617700 Oct 11, 2018 (152)
122 ILLUMINA ss3651388891 Oct 11, 2018 (152)
123 ILLUMINA ss3653622389 Oct 11, 2018 (152)
124 EGCUT_WGS ss3654504324 Jul 12, 2019 (153)
125 EVA_DECODE ss3686306410 Jul 12, 2019 (153)
126 ILLUMINA ss3725003822 Jul 12, 2019 (153)
127 ACPOP ss3726852714 Jul 12, 2019 (153)
128 ILLUMINA ss3744340957 Jul 12, 2019 (153)
129 ILLUMINA ss3744612367 Jul 12, 2019 (153)
130 EVA ss3745917653 Jul 12, 2019 (153)
131 PAGE_CC ss3770791530 Jul 12, 2019 (153)
132 ILLUMINA ss3772113933 Jul 12, 2019 (153)
133 PACBIO ss3783347129 Jul 12, 2019 (153)
134 PACBIO ss3789017703 Jul 12, 2019 (153)
135 PACBIO ss3793890176 Jul 12, 2019 (153)
136 KHV_HUMAN_GENOMES ss3798937377 Jul 12, 2019 (153)
137 EVA ss3823573049 Apr 25, 2020 (154)
138 EVA ss3825556497 Apr 25, 2020 (154)
139 EVA ss3826060928 Apr 25, 2020 (154)
140 EVA ss3836418657 Apr 25, 2020 (154)
141 EVA ss3841823112 Apr 25, 2020 (154)
142 SGDP_PRJ ss3848365514 Apr 25, 2020 (154)
143 KRGDB ss3893274492 Apr 25, 2020 (154)
144 FSA-LAB ss3983921250 Apr 27, 2021 (155)
145 FSA-LAB ss3983921251 Apr 27, 2021 (155)
146 EVA ss3984453476 Apr 27, 2021 (155)
147 EVA ss3986009513 Apr 27, 2021 (155)
148 EVA ss3986105263 Apr 27, 2021 (155)
149 TOPMED ss4441477808 Apr 27, 2021 (155)
150 TOMMO_GENOMICS ss5142836451 Apr 27, 2021 (155)
151 EVA ss5236865747 Apr 27, 2021 (155)
152 1000Genomes NC_000001.10 - 20992819 Oct 11, 2018 (152)
153 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 20992819 Oct 11, 2018 (152)
154 Genetic variation in the Estonian population NC_000001.10 - 20992819 Oct 11, 2018 (152)
155 ExAC NC_000001.10 - 20992819 Oct 11, 2018 (152)
156 FINRISK NC_000001.10 - 20992819 Apr 25, 2020 (154)
157 The Danish reference pan genome NC_000001.10 - 20992819 Apr 25, 2020 (154)
158 gnomAD - Genomes NC_000001.11 - 20666326 Apr 27, 2021 (155)
159 gnomAD - Exomes NC_000001.10 - 20992819 Jul 12, 2019 (153)
160 GO Exome Sequencing Project NC_000001.10 - 20992819 Oct 11, 2018 (152)
161 Genome of the Netherlands Release 5 NC_000001.10 - 20992819 Apr 25, 2020 (154)
162 HapMap NC_000001.11 - 20666326 Apr 25, 2020 (154)
163 KOREAN population from KRGDB NC_000001.10 - 20992819 Apr 25, 2020 (154)
164 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 20992819 Apr 25, 2020 (154)
165 Northern Sweden NC_000001.10 - 20992819 Jul 12, 2019 (153)
166 The PAGE Study NC_000001.11 - 20666326 Jul 12, 2019 (153)
167 CNV burdens in cranial meningiomas NC_000001.10 - 20992819 Apr 27, 2021 (155)
168 Qatari NC_000001.10 - 20992819 Apr 25, 2020 (154)
169 SGDP_PRJ NC_000001.10 - 20992819 Apr 25, 2020 (154)
170 Siberian NC_000001.10 - 20992819 Apr 25, 2020 (154)
171 8.3KJPN NC_000001.10 - 20992819 Apr 27, 2021 (155)
172 TopMed NC_000001.11 - 20666326 Apr 27, 2021 (155)
173 UK 10K study - Twins NC_000001.10 - 20992819 Oct 11, 2018 (152)
174 A Vietnamese Genetic Variation Database NC_000001.10 - 20992819 Jul 12, 2019 (153)
175 ALFA NC_000001.11 - 20666326 Apr 27, 2021 (155)
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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)
rs16824400 Oct 07, 2004 (123)
rs17846197 Mar 11, 2006 (126)
rs17859212 Mar 11, 2006 (126)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
451886, ss3893274492 NC_000001.10:20992818:G:A NC_000001.11:20666325:G:A (self)
973063634, ss3070421330 NC_000001.11:20666325:G:A NC_000001.11:20666325:G:A (self)
ss87283676, ss110155903, ss118550133, ss160770165, ss163157273, ss163941095, ss166209197, ss198136381, ss205210379, ss210448152, ss217314466, ss217390924, ss217392168, ss217400064, ss217405963, ss217410593, ss217411103, ss252968591, ss275745679, ss284015054, ss290782212, ss482215382, ss491587953, ss1584285053 NC_000001.9:20865405:G:C NC_000001.11:20666325:G:C (self)
645662, 340589, 242572, 4551873, 2039, 1418472, 231959, 31761, 147977, 451886, 10587, 137579, 2778, 180526, 382494, 101143, 805758, 340589, 73083, ss218273869, ss230455001, ss238164606, ss341941778, ss482240320, ss483098235, ss489726599, ss491288469, ss535276633, ss553870837, ss647627441, ss779497571, ss780811341, ss781992469, ss783493223, ss832615425, ss834967772, ss974433766, ss974926811, ss1067417579, ss1067721461, ss1289960343, ss1425739106, ss1573929353, ss1584005578, ss1599688076, ss1642682109, ss1685368239, ss1710893835, ss1751895863, ss1794032403, ss1917724210, ss1918138596, ss1945987329, ss1958250510, ss1966701072, ss2019581122, ss2147584789, ss2322753435, ss2624307033, ss2632487407, ss2697489436, ss2731218431, ss2746248111, ss2752446147, ss2984848596, ss2986433914, ss3021063945, ss3343358223, ss3626043813, ss3626043814, ss3630525193, ss3634311407, ss3635987644, ss3637741839, ss3640018771, ss3644483188, ss3646226209, ss3651388891, ss3653622389, ss3654504324, ss3726852714, ss3744340957, ss3744612367, ss3745917653, ss3772113933, ss3783347129, ss3789017703, ss3793890176, ss3823573049, ss3825556497, ss3826060928, ss3836418657, ss3848365514, ss3893274492, ss3983921250, ss3983921251, ss3984453476, ss3986009513, ss3986105263, ss5142836451 NC_000001.10:20992818:G:C NC_000001.11:20666325:G:C (self)
4481288, 26691, 12999, 3194970, 5084143, 973063634, ss2160571190, ss3023555904, ss3070421331, ss3646617700, ss3686306410, ss3725003822, ss3770791530, ss3798937377, ss3841823112, ss4441477808, ss5236865747 NC_000001.11:20666325:G:C NC_000001.11:20666325:G:C (self)
ss11366097, ss13005281 NT_004610.15:1796068:G:C NC_000001.11:20666325:G:C (self)
ss15414516, ss20450064 NT_004610.16:1796068:G:C NC_000001.11:20666325:G:C (self)
ss803940, ss1081382, ss1082115, ss1082325, ss1082671, ss1908666, ss1908813, ss1909172, ss1909427, ss1909591, ss1909644, ss2399725, ss3240256, ss23842786, ss28498582, ss28513514, ss44111265, ss48429794, ss68427406, ss68760832, ss71642559, ss97923830, ss105129431, ss137834632, ss139082644, ss152536365, ss154739030, ss159102629, ss159696539, ss168870856 NT_004610.19:7672906:G:C NC_000001.11:20666325:G:C (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs631357
PMID Title Author Year Journal
24194833 Using information interaction to discover epistatic effects in complex diseases. Anunciação O et al. 2013 PloS one
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