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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.

rs522496

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:20698408 (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
C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.409951 (108510/264690, TOPMED)
C=0.371882 (93164/250520, GnomAD_exome)
C=0.368592 (75840/205756, ALFA) (+ 22 more)
C=0.404678 (56650/139988, GnomAD)
C=0.379011 (45739/120680, ExAC)
C=0.43271 (34050/78690, PAGE_STUDY)
C=0.36378 (6097/16760, 8.3KJPN)
C=0.40858 (5314/13006, GO-ESP)
C=0.4032 (2019/5008, 1000G)
C=0.3248 (1455/4480, Estonian)
C=0.3669 (1414/3854, ALSPAC)
C=0.3649 (1353/3708, TWINSUK)
C=0.4164 (1220/2930, KOREAN)
C=0.4370 (826/1890, HapMap)
C=0.4050 (742/1832, Korea1K)
C=0.380 (379/998, GoNL)
C=0.388 (294/758, PRJEB37584)
C=0.297 (182/612, Vietnamese)
C=0.357 (214/600, NorthernSweden)
C=0.380 (203/534, MGP)
C=0.290 (138/476, SGDP_PRJ)
C=0.290 (87/300, FINRISK)
C=0.394 (85/216, Qatari)
C=0.20 (10/50, Siberian)
C=0.33 (13/40, 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.20698408C>A
GRCh38.p13 chr 1 NC_000001.11:g.20698408C>T
GRCh37.p13 chr 1 NC_000001.10:g.21024901C>A
GRCh37.p13 chr 1 NC_000001.10:g.21024901C>T
Gene: KIF17, kinesin family member 17 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
KIF17 transcript variant 2 NM_001122819.3:c.1204G>T V [GTG] > L [TTG] Coding Sequence Variant
kinesin-like protein KIF17 isoform b NP_001116291.1:p.Val402Leu V (Val) > L (Leu) Missense Variant
KIF17 transcript variant 2 NM_001122819.3:c.1204G>A V [GTG] > M [ATG] Coding Sequence Variant
kinesin-like protein KIF17 isoform b NP_001116291.1:p.Val402Met V (Val) > M (Met) Missense Variant
KIF17 transcript variant 3 NM_001287212.2:c.904G>T V [GTG] > L [TTG] Coding Sequence Variant
kinesin-like protein KIF17 isoform c NP_001274141.1:p.Val302Leu V (Val) > L (Leu) Missense Variant
KIF17 transcript variant 3 NM_001287212.2:c.904G>A V [GTG] > M [ATG] Coding Sequence Variant
kinesin-like protein KIF17 isoform c NP_001274141.1:p.Val302Met V (Val) > M (Met) Missense Variant
KIF17 transcript variant 1 NM_020816.4:c.1204G>T V [GTG] > L [TTG] Coding Sequence Variant
kinesin-like protein KIF17 isoform a NP_065867.2:p.Val402Leu V (Val) > L (Leu) Missense Variant
KIF17 transcript variant 1 NM_020816.4:c.1204G>A V [GTG] > M [ATG] Coding Sequence Variant
kinesin-like protein KIF17 isoform a NP_065867.2:p.Val402Met V (Val) > M (Met) 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
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 205756 C=0.368592 T=0.631408
European Sub 176292 C=0.362921 T=0.637079
African Sub 6314 C=0.4989 T=0.5011
African Others Sub 220 C=0.568 T=0.432
African American Sub 6094 C=0.4964 T=0.5036
Asian Sub 6362 C=0.3933 T=0.6067
East Asian Sub 4512 C=0.4029 T=0.5971
Other Asian Sub 1850 C=0.3697 T=0.6303
Latin American 1 Sub 478 C=0.368 T=0.632
Latin American 2 Sub 1094 C=0.3263 T=0.6737
South Asian Sub 296 C=0.422 T=0.578
Other Sub 14920 C=0.37198 T=0.62802


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 C=0.409951 T=0.590049
gnomAD - Exomes Global Study-wide 250520 C=0.371882 T=0.628118
gnomAD - Exomes European Sub 134606 C=0.356879 T=0.643121
gnomAD - Exomes Asian Sub 48962 C=0.40527 T=0.59473
gnomAD - Exomes American Sub 34552 C=0.33584 T=0.66416
gnomAD - Exomes African Sub 16220 C=0.51036 T=0.48964
gnomAD - Exomes Ashkenazi Jewish Sub 10052 C=0.31188 T=0.68812
gnomAD - Exomes Other Sub 6128 C=0.3698 T=0.6302
gnomAD - Genomes Global Study-wide 139988 C=0.404678 T=0.595322
gnomAD - Genomes European Sub 75850 C=0.36240 T=0.63760
gnomAD - Genomes African Sub 41912 C=0.51222 T=0.48778
gnomAD - Genomes American Sub 13636 C=0.34306 T=0.65694
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.2989 T=0.7011
gnomAD - Genomes East Asian Sub 3126 C=0.3698 T=0.6302
gnomAD - Genomes Other Sub 2142 C=0.4048 T=0.5952
ExAC Global Study-wide 120680 C=0.379011 T=0.620989
ExAC Europe Sub 72796 C=0.35630 T=0.64370
ExAC Asian Sub 25094 C=0.40946 T=0.59054
ExAC American Sub 11544 C=0.33948 T=0.66052
ExAC African Sub 10350 C=0.50821 T=0.49179
ExAC Other Sub 896 C=0.388 T=0.612
The PAGE Study Global Study-wide 78690 C=0.43271 T=0.56729
The PAGE Study AfricanAmerican Sub 32508 C=0.51144 T=0.48856
The PAGE Study Mexican Sub 10808 C=0.34660 T=0.65340
The PAGE Study Asian Sub 8318 C=0.3629 T=0.6371
The PAGE Study PuertoRican Sub 7918 C=0.3920 T=0.6080
The PAGE Study NativeHawaiian Sub 4534 C=0.4385 T=0.5615
The PAGE Study Cuban Sub 4228 C=0.3777 T=0.6223
The PAGE Study Dominican Sub 3828 C=0.4269 T=0.5731
The PAGE Study CentralAmerican Sub 2450 C=0.3457 T=0.6543
The PAGE Study SouthAmerican Sub 1982 C=0.3153 T=0.6847
The PAGE Study NativeAmerican Sub 1260 C=0.3754 T=0.6246
The PAGE Study SouthAsian Sub 856 C=0.457 T=0.543
8.3KJPN JAPANESE Study-wide 16760 C=0.36378 T=0.63622
GO Exome Sequencing Project Global Study-wide 13006 C=0.40858 T=0.59142
GO Exome Sequencing Project European American Sub 8600 C=0.3609 T=0.6391
GO Exome Sequencing Project African American Sub 4406 C=0.5016 T=0.4984
1000Genomes Global Study-wide 5008 C=0.4032 T=0.5968
1000Genomes African Sub 1322 C=0.5545 T=0.4455
1000Genomes East Asian Sub 1008 C=0.3502 T=0.6498
1000Genomes Europe Sub 1006 C=0.3131 T=0.6869
1000Genomes South Asian Sub 978 C=0.433 T=0.567
1000Genomes American Sub 694 C=0.281 T=0.719
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.3248 T=0.6752
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.3669 T=0.6331
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.3649 T=0.6351
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.4164 T=0.5836
HapMap Global Study-wide 1890 C=0.4370 T=0.5630
HapMap American Sub 768 C=0.383 T=0.617
HapMap African Sub 692 C=0.553 T=0.447
HapMap Asian Sub 254 C=0.366 T=0.634
HapMap Europe Sub 176 C=0.318 T=0.682
Korean Genome Project KOREAN Study-wide 1832 C=0.4050 T=0.5950
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.380 T=0.620
CNV burdens in cranial meningiomas Global Study-wide 758 C=0.388 T=0.612
CNV burdens in cranial meningiomas CRM Sub 758 C=0.388 T=0.612
A Vietnamese Genetic Variation Database Global Study-wide 612 C=0.297 T=0.703
Northern Sweden ACPOP Study-wide 600 C=0.357 T=0.643
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.380 T=0.620
SGDP_PRJ Global Study-wide 476 C=0.290 T=0.710
FINRISK Finnish from FINRISK project Study-wide 300 C=0.290 T=0.710
Qatari Global Study-wide 216 C=0.394 T=0.606
Siberian Global Study-wide 50 C=0.20 T=0.80
The Danish reference pan genome Danish Study-wide 40 C=0.33 T=0.68
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 C= A T
GRCh38.p13 chr 1 NC_000001.11:g.20698408= NC_000001.11:g.20698408C>A NC_000001.11:g.20698408C>T
GRCh37.p13 chr 1 NC_000001.10:g.21024901= NC_000001.10:g.21024901C>A NC_000001.10:g.21024901C>T
KIF17 transcript variant 1 NM_020816.4:c.1204= NM_020816.4:c.1204G>T NM_020816.4:c.1204G>A
KIF17 transcript variant 1 NM_020816.3:c.1204= NM_020816.3:c.1204G>T NM_020816.3:c.1204G>A
KIF17 transcript variant 1 NM_020816.2:c.1204= NM_020816.2:c.1204G>T NM_020816.2:c.1204G>A
KIF17 transcript variant 2 NM_001122819.3:c.1204= NM_001122819.3:c.1204G>T NM_001122819.3:c.1204G>A
KIF17 transcript variant 2 NM_001122819.2:c.1204= NM_001122819.2:c.1204G>T NM_001122819.2:c.1204G>A
KIF17 transcript variant 2 NM_001122819.1:c.1204= NM_001122819.1:c.1204G>T NM_001122819.1:c.1204G>A
KIF17 transcript variant 3 NM_001287212.2:c.904= NM_001287212.2:c.904G>T NM_001287212.2:c.904G>A
KIF17 transcript variant 3 NM_001287212.1:c.904= NM_001287212.1:c.904G>T NM_001287212.1:c.904G>A
kinesin-like protein KIF17 isoform a NP_065867.2:p.Val402= NP_065867.2:p.Val402Leu NP_065867.2:p.Val402Met
kinesin-like protein KIF17 isoform b NP_001116291.1:p.Val402= NP_001116291.1:p.Val402Leu NP_001116291.1:p.Val402Met
kinesin-like protein KIF17 isoform c NP_001274141.1:p.Val302= NP_001274141.1:p.Val302Leu NP_001274141.1:p.Val302Met
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#.

136 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss692860 Aug 11, 2000 (83)
2 YUSUKE ss3209802 Sep 28, 2001 (100)
3 SC_SNP ss13005755 Dec 05, 2003 (119)
4 SSAHASNP ss20563260 Apr 05, 2004 (121)
5 PERLEGEN ss23159512 Sep 20, 2004 (123)
6 ABI ss44123871 Mar 13, 2006 (126)
7 APPLERA_GI ss48429785 Mar 13, 2006 (126)
8 ILLUMINA ss65728633 Oct 14, 2006 (127)
9 PERLEGEN ss68760856 May 16, 2007 (127)
10 AFFY ss74806816 Aug 16, 2007 (128)
11 ILLUMINA ss74907212 Dec 06, 2007 (129)
12 SI_EXO ss76885970 Dec 06, 2007 (129)
13 BCMHGSC_JDW ss87283870 Mar 23, 2008 (129)
14 HUMANGENOME_JCVI ss97923859 Feb 03, 2009 (130)
15 BGI ss105129454 Dec 01, 2009 (131)
16 1000GENOMES ss108047763 Jan 22, 2009 (130)
17 ENSEMBL ss137834776 Dec 01, 2009 (131)
18 ENSEMBL ss139081744 Dec 01, 2009 (131)
19 GMI ss154739488 Dec 01, 2009 (131)
20 SEATTLESEQ ss159696545 Dec 01, 2009 (131)
21 COMPLETE_GENOMICS ss163157765 Jul 04, 2010 (132)
22 COMPLETE_GENOMICS ss163941544 Jul 04, 2010 (132)
23 COMPLETE_GENOMICS ss166209535 Jul 04, 2010 (132)
24 ILLUMINA ss173912481 Jul 04, 2010 (132)
25 BUSHMAN ss198136862 Jul 04, 2010 (132)
26 1000GENOMES ss210483822 Jul 14, 2010 (132)
27 1000GENOMES ss217314492 Jul 14, 2010 (132)
28 1000GENOMES ss217390955 Jul 14, 2010 (132)
29 1000GENOMES ss217392202 Jul 14, 2010 (132)
30 1000GENOMES ss217400082 Jul 14, 2010 (132)
31 1000GENOMES ss217406077 Jul 14, 2010 (132)
32 1000GENOMES ss217410623 Jul 14, 2010 (132)
33 1000GENOMES ss217411197 Jul 14, 2010 (132)
34 1000GENOMES ss218273993 Jul 14, 2010 (132)
35 1000GENOMES ss230455108 Jul 14, 2010 (132)
36 1000GENOMES ss238164695 Jul 15, 2010 (132)
37 BL ss252968705 May 09, 2011 (134)
38 GMI ss275745780 May 04, 2012 (137)
39 GMI ss284015095 Apr 25, 2013 (138)
40 PJP ss290782268 May 09, 2011 (134)
41 NHLBI-ESP ss341941924 May 09, 2011 (134)
42 ILLUMINA ss481564140 May 04, 2012 (137)
43 ILLUMINA ss482216229 May 04, 2012 (137)
44 1000GENOMES ss489726688 May 04, 2012 (137)
45 EXOME_CHIP ss491288502 May 04, 2012 (137)
46 CLINSEQ_SNP ss491587975 May 04, 2012 (137)
47 ILLUMINA ss534316818 Sep 08, 2015 (146)
48 TISHKOFF ss553871121 Apr 25, 2013 (138)
49 SSMP ss647627631 Apr 25, 2013 (138)
50 ILLUMINA ss779489644 Sep 08, 2015 (146)
51 ILLUMINA ss780811526 Sep 08, 2015 (146)
52 ILLUMINA ss781512939 Sep 08, 2015 (146)
53 ILLUMINA ss783493412 Sep 08, 2015 (146)
54 ILLUMINA ss834959752 Sep 08, 2015 (146)
55 JMKIDD_LAB ss974433779 Aug 21, 2014 (142)
56 EVA-GONL ss974927073 Aug 21, 2014 (142)
57 JMKIDD_LAB ss1067417601 Aug 21, 2014 (142)
58 JMKIDD_LAB ss1067721650 Aug 21, 2014 (142)
59 1000GENOMES ss1289961400 Aug 21, 2014 (142)
60 DDI ss1425739189 Apr 01, 2015 (144)
61 EVA_GENOME_DK ss1573929529 Apr 01, 2015 (144)
62 EVA_FINRISK ss1584005582 Apr 01, 2015 (144)
63 EVA_DECODE ss1584285322 Apr 01, 2015 (144)
64 EVA_UK10K_ALSPAC ss1599688631 Apr 01, 2015 (144)
65 EVA_UK10K_TWINSUK ss1642682664 Apr 01, 2015 (144)
66 EVA_EXAC ss1685368768 Apr 01, 2015 (144)
67 EVA_MGP ss1710893880 Apr 01, 2015 (144)
68 EVA_SVP ss1712316630 Apr 01, 2015 (144)
69 ILLUMINA ss1751896019 Sep 08, 2015 (146)
70 HAMMER_LAB ss1794033114 Sep 08, 2015 (146)
71 ILLUMINA ss1917724238 Feb 12, 2016 (147)
72 WEILL_CORNELL_DGM ss1918138902 Feb 12, 2016 (147)
73 ILLUMINA ss1945987364 Feb 12, 2016 (147)
74 ILLUMINA ss1958250593 Feb 12, 2016 (147)
75 GENOMED ss1966701122 Jul 19, 2016 (147)
76 JJLAB ss2019581266 Sep 14, 2016 (149)
77 USC_VALOUEV ss2147584956 Dec 20, 2016 (150)
78 HUMAN_LONGEVITY ss2160573309 Dec 20, 2016 (150)
79 TOPMED ss2322755530 Dec 20, 2016 (150)
80 SYSTEMSBIOZJU ss2624307115 Nov 08, 2017 (151)
81 ILLUMINA ss2632487466 Nov 08, 2017 (151)
82 GRF ss2697489592 Nov 08, 2017 (151)
83 GNOMAD ss2731219204 Nov 08, 2017 (151)
84 GNOMAD ss2746248372 Nov 08, 2017 (151)
85 GNOMAD ss2752449094 Nov 08, 2017 (151)
86 AFFY ss2984848630 Nov 08, 2017 (151)
87 SWEGEN ss2986434356 Nov 08, 2017 (151)
88 ILLUMINA ss3021064026 Nov 08, 2017 (151)
89 EVA_SAMSUNG_MC ss3023056461 Nov 08, 2017 (151)
90 BIOINF_KMB_FNS_UNIBA ss3023555980 Nov 08, 2017 (151)
91 TOPMED ss3070427536 Nov 08, 2017 (151)
92 CSHL ss3343358353 Nov 08, 2017 (151)
93 ILLUMINA ss3626043918 Oct 11, 2018 (152)
94 ILLUMINA ss3626043919 Oct 11, 2018 (152)
95 ILLUMINA ss3630525249 Oct 11, 2018 (152)
96 ILLUMINA ss3634311462 Oct 11, 2018 (152)
97 ILLUMINA ss3637741867 Oct 11, 2018 (152)
98 ILLUMINA ss3640018826 Oct 11, 2018 (152)
99 ILLUMINA ss3642755291 Oct 11, 2018 (152)
100 ILLUMINA ss3644483222 Oct 11, 2018 (152)
101 OMUKHERJEE_ADBS ss3646226226 Oct 11, 2018 (152)
102 URBANLAB ss3646617773 Oct 11, 2018 (152)
103 ILLUMINA ss3651388974 Oct 11, 2018 (152)
104 ILLUMINA ss3653622421 Oct 11, 2018 (152)
105 EGCUT_WGS ss3654504775 Jul 12, 2019 (153)
106 EVA_DECODE ss3686306943 Jul 12, 2019 (153)
107 ILLUMINA ss3725003885 Jul 12, 2019 (153)
108 ACPOP ss3726852959 Jul 12, 2019 (153)
109 ILLUMINA ss3744340986 Jul 12, 2019 (153)
110 ILLUMINA ss3744612422 Jul 12, 2019 (153)
111 EVA ss3745918020 Jul 12, 2019 (153)
112 PAGE_CC ss3770791586 Jul 12, 2019 (153)
113 ILLUMINA ss3772113988 Jul 12, 2019 (153)
114 PACBIO ss3783347207 Jul 12, 2019 (153)
115 PACBIO ss3789017767 Jul 12, 2019 (153)
116 PACBIO ss3793890243 Jul 12, 2019 (153)
117 KHV_HUMAN_GENOMES ss3798937721 Jul 12, 2019 (153)
118 EVA ss3823573182 Apr 25, 2020 (154)
119 EVA ss3825517817 Apr 25, 2020 (154)
120 EVA ss3825534969 Apr 25, 2020 (154)
121 EVA ss3825556534 Apr 25, 2020 (154)
122 EVA ss3826061079 Apr 25, 2020 (154)
123 EVA ss3836418740 Apr 25, 2020 (154)
124 EVA ss3841823196 Apr 25, 2020 (154)
125 SGDP_PRJ ss3848366091 Apr 25, 2020 (154)
126 KRGDB ss3893275158 Apr 25, 2020 (154)
127 KOGIC ss3943991344 Apr 25, 2020 (154)
128 FSA-LAB ss3983921284 Apr 27, 2021 (155)
129 FSA-LAB ss3983921285 Apr 27, 2021 (155)
130 EVA ss3984453485 Apr 27, 2021 (155)
131 EVA ss3986009516 Apr 27, 2021 (155)
132 EVA ss3986105339 Apr 27, 2021 (155)
133 TOPMED ss4441485840 Apr 27, 2021 (155)
134 TOMMO_GENOMICS ss5142837592 Apr 27, 2021 (155)
135 EVA ss5236865765 Apr 27, 2021 (155)
136 EVA ss5237160239 Apr 27, 2021 (155)
137 1000Genomes NC_000001.10 - 21024901 Oct 11, 2018 (152)
138 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 21024901 Oct 11, 2018 (152)
139 Genetic variation in the Estonian population NC_000001.10 - 21024901 Oct 11, 2018 (152)
140 ExAC NC_000001.10 - 21024901 Oct 11, 2018 (152)
141 FINRISK NC_000001.10 - 21024901 Apr 25, 2020 (154)
142 The Danish reference pan genome NC_000001.10 - 21024901 Apr 25, 2020 (154)
143 gnomAD - Genomes NC_000001.11 - 20698408 Apr 27, 2021 (155)
144 gnomAD - Exomes NC_000001.10 - 21024901 Jul 12, 2019 (153)
145 GO Exome Sequencing Project NC_000001.10 - 21024901 Oct 11, 2018 (152)
146 Genome of the Netherlands Release 5 NC_000001.10 - 21024901 Apr 25, 2020 (154)
147 HapMap NC_000001.11 - 20698408 Apr 25, 2020 (154)
148 KOREAN population from KRGDB NC_000001.10 - 21024901 Apr 25, 2020 (154)
149 Korean Genome Project NC_000001.11 - 20698408 Apr 25, 2020 (154)
150 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 21024901 Apr 25, 2020 (154)
151 Northern Sweden NC_000001.10 - 21024901 Jul 12, 2019 (153)
152 The PAGE Study NC_000001.11 - 20698408 Jul 12, 2019 (153)
153 CNV burdens in cranial meningiomas NC_000001.10 - 21024901 Apr 27, 2021 (155)
154 Qatari NC_000001.10 - 21024901 Apr 25, 2020 (154)
155 SGDP_PRJ NC_000001.10 - 21024901 Apr 25, 2020 (154)
156 Siberian NC_000001.10 - 21024901 Apr 25, 2020 (154)
157 8.3KJPN NC_000001.10 - 21024901 Apr 27, 2021 (155)
158 TopMed NC_000001.11 - 20698408 Apr 27, 2021 (155)
159 UK 10K study - Twins NC_000001.10 - 21024901 Oct 11, 2018 (152)
160 A Vietnamese Genetic Variation Database NC_000001.10 - 21024901 Jul 12, 2019 (153)
161 ALFA NC_000001.11 - 20698408 Apr 27, 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)
rs52835247 Sep 21, 2007 (128)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2731219204 NC_000001.10:21024900:C:A NC_000001.11:20698407:C:A (self)
ss87283870, ss108047763, ss163157765, ss163941544, ss166209535, ss198136862, ss210483822, ss217314492, ss217390955, ss217392202, ss217400082, ss217406077, ss217410623, ss217411197, ss252968705, ss275745780, ss284015095, ss290782268, ss482216229, ss491587975, ss1584285322, ss1712316630, ss3642755291 NC_000001.9:20897487:C:T NC_000001.11:20698407:C:T (self)
646761, 341202, 243023, 4552428, 2043, 1418582, 232760, 31894, 148226, 452552, 10632, 137824, 2787, 180832, 383071, 101310, 806899, 341202, 73220, ss218273993, ss230455108, ss238164695, ss341941924, ss481564140, ss489726688, ss491288502, ss534316818, ss553871121, ss647627631, ss779489644, ss780811526, ss781512939, ss783493412, ss834959752, ss974433779, ss974927073, ss1067417601, ss1067721650, ss1289961400, ss1425739189, ss1573929529, ss1584005582, ss1599688631, ss1642682664, ss1685368768, ss1710893880, ss1751896019, ss1794033114, ss1917724238, ss1918138902, ss1945987364, ss1958250593, ss1966701122, ss2019581266, ss2147584956, ss2322755530, ss2624307115, ss2632487466, ss2697489592, ss2731219204, ss2746248372, ss2752449094, ss2984848630, ss2986434356, ss3021064026, ss3023056461, ss3343358353, ss3626043918, ss3626043919, ss3630525249, ss3634311462, ss3637741867, ss3640018826, ss3644483222, ss3646226226, ss3651388974, ss3653622421, ss3654504775, ss3726852959, ss3744340986, ss3744612422, ss3745918020, ss3772113988, ss3783347207, ss3789017767, ss3793890243, ss3823573182, ss3825517817, ss3825534969, ss3825556534, ss3826061079, ss3836418740, ss3848366091, ss3893275158, ss3983921284, ss3983921285, ss3984453485, ss3986009516, ss3986105339, ss5142837592 NC_000001.10:21024900:C:T NC_000001.11:20698407:C:T (self)
4488085, 26759, 369345, 13055, 3200134, 5092175, 11955623467, ss2160573309, ss3023555980, ss3070427536, ss3646617773, ss3686306943, ss3725003885, ss3770791586, ss3798937721, ss3841823196, ss3943991344, ss4441485840, ss5236865765, ss5237160239 NC_000001.11:20698407:C:T NC_000001.11:20698407:C:T (self)
ss13005755 NT_004610.15:1828150:C:T NC_000001.11:20698407:C:T (self)
ss20563260 NT_004610.16:1828150:C:T NC_000001.11:20698407:C:T (self)
ss76885970 NT_004610.18:3849242:C:T NC_000001.11:20698407:C:T (self)
ss692860, ss3209802, ss23159512, ss44123871, ss48429785, ss65728633, ss68760856, ss74806816, ss74907212, ss97923859, ss105129454, ss137834776, ss139081744, ss154739488, ss159696545, ss173912481 NT_004610.19:7704988:C:T NC_000001.11:20698407:C:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs522496
PMID Title Author Year Journal
26421900 A decrease in protein level and a missense polymorphism of KIF17 are associated with schizophrenia. Ratta-Apha W et al. 2015 Psychiatry research
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