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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.

rs1570663

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:20670264 (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
T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.204054 (54011/264690, TOPMED)
G=0.213888 (30989/144884, ALFA)
G=0.198703 (27812/139968, GnomAD) (+ 16 more)
G=0.30561 (5122/16760, 8.3KJPN)
G=0.2079 (1041/5008, 1000G)
G=0.2433 (1090/4480, Estonian)
G=0.2265 (873/3854, ALSPAC)
G=0.2050 (760/3708, TWINSUK)
G=0.2570 (753/2930, KOREAN)
G=0.2664 (488/1832, Korea1K)
G=0.210 (210/998, GoNL)
G=0.188 (113/600, NorthernSweden)
G=0.030 (16/534, MGP)
G=0.236 (76/322, HapMap)
T=0.412 (93/226, SGDP_PRJ)
G=0.139 (30/216, Qatari)
G=0.17 (14/80, Ancient Sardinia)
G=0.17 (7/40, GENOME_DK)
T=0.43 (13/30, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
KIF17 : 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 1 NC_000001.11:g.20670264T>C
GRCh38.p13 chr 1 NC_000001.11:g.20670264T>G
GRCh37.p13 chr 1 NC_000001.10:g.20996757T>C
GRCh37.p13 chr 1 NC_000001.10:g.20996757T>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.2790+157…

NM_001122819.3:c.2790+157A>G

N/A Intron Variant
KIF17 transcript variant 3 NM_001287212.2:c.2493+157…

NM_001287212.2:c.2493+157A>G

N/A Intron Variant
KIF17 transcript variant 1 NM_020816.4:c.2793+157A>G 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

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 144884 T=0.786112 G=0.213888
European Sub 124602 T=0.787636 G=0.212364
African Sub 5664 T=0.8446 G=0.1554
African Others Sub 228 T=0.820 G=0.180
African American Sub 5436 T=0.8457 G=0.1543
Asian Sub 630 T=0.754 G=0.246
East Asian Sub 494 T=0.753 G=0.247
Other Asian Sub 136 T=0.757 G=0.243
Latin American 1 Sub 818 T=0.756 G=0.244
Latin American 2 Sub 6798 T=0.7192 G=0.2808
South Asian Sub 206 T=0.752 G=0.248
Other Sub 6166 T=0.7838 G=0.2162


Help

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

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 T=0.795946 G=0.204054
gnomAD - Genomes Global Study-wide 139968 T=0.801297 G=0.198703
gnomAD - Genomes European Sub 75806 T=0.78729 G=0.21271
gnomAD - Genomes African Sub 41966 T=0.84604 G=0.15396
gnomAD - Genomes American Sub 13608 T=0.75015 G=0.24985
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.8200 G=0.1800
gnomAD - Genomes East Asian Sub 3118 T=0.7453 G=0.2547
gnomAD - Genomes Other Sub 2148 T=0.7980 G=0.2020
8.3KJPN JAPANESE Study-wide 16760 T=0.69439 G=0.30561
1000Genomes Global Study-wide 5008 T=0.7921 G=0.2079
1000Genomes African Sub 1322 T=0.8608 G=0.1392
1000Genomes East Asian Sub 1008 T=0.7639 G=0.2361
1000Genomes Europe Sub 1006 T=0.7982 G=0.2018
1000Genomes South Asian Sub 978 T=0.765 G=0.235
1000Genomes American Sub 694 T=0.732 G=0.268
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.7567 G=0.2433
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.7735 G=0.2265
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.7950 G=0.2050
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.7430 G=0.2570
Korean Genome Project KOREAN Study-wide 1832 T=0.7336 G=0.2664
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.790 G=0.210
Northern Sweden ACPOP Study-wide 600 T=0.812 G=0.188
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.970 G=0.030
HapMap Global Study-wide 322 T=0.764 G=0.236
HapMap African Sub 118 T=0.822 G=0.178
HapMap American Sub 116 T=0.733 G=0.267
HapMap Asian Sub 88 T=0.73 G=0.27
SGDP_PRJ Global Study-wide 226 T=0.412 G=0.588
Qatari Global Study-wide 216 T=0.861 G=0.139
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 80 T=0.82 G=0.17
The Danish reference pan genome Danish Study-wide 40 T=0.82 G=0.17
Siberian Global Study-wide 30 T=0.43 G=0.57
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement T= C G
GRCh38.p13 chr 1 NC_000001.11:g.20670264= NC_000001.11:g.20670264T>C NC_000001.11:g.20670264T>G
GRCh37.p13 chr 1 NC_000001.10:g.20996757= NC_000001.10:g.20996757T>C NC_000001.10:g.20996757T>G
KIF17 transcript variant 2 NM_001122819.1:c.2790+157= NM_001122819.1:c.2790+157A>G NM_001122819.1:c.2790+157A>C
KIF17 transcript variant 2 NM_001122819.3:c.2790+157= NM_001122819.3:c.2790+157A>G NM_001122819.3:c.2790+157A>C
KIF17 transcript variant 3 NM_001287212.2:c.2493+157= NM_001287212.2:c.2493+157A>G NM_001287212.2:c.2493+157A>C
KIF17 transcript variant 1 NM_020816.2:c.2793+157= NM_020816.2:c.2793+157A>G NM_020816.2:c.2793+157A>C
KIF17 transcript variant 1 NM_020816.4:c.2793+157= NM_020816.4:c.2793+157A>G NM_020816.4:c.2793+157A>C
KIF17 transcript variant X1 XM_005245950.1:c.2793+157= XM_005245950.1:c.2793+157A>G XM_005245950.1:c.2793+157A>C
KIF17 transcript variant X2 XM_005245951.1:c.2790+157= XM_005245951.1:c.2790+157A>G XM_005245951.1:c.2790+157A>C
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

81 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2415143 Oct 23, 2000 (88)
2 YUSUKE ss3240258 Sep 28, 2001 (100)
3 SC_JCM ss5620747 Feb 20, 2003 (111)
4 WUGSC_SSAHASNP ss14458877 Dec 05, 2003 (119)
5 PERLEGEN ss68760834 May 17, 2007 (127)
6 1000GENOMES ss108047590 Jan 22, 2009 (130)
7 ILLUMINA ss152536359 Dec 01, 2009 (131)
8 GMI ss154739102 Dec 01, 2009 (131)
9 ILLUMINA ss159102628 Dec 01, 2009 (131)
10 ILLUMINA ss160374800 Dec 01, 2009 (131)
11 ILLUMINA ss168870842 Jul 04, 2010 (132)
12 BUSHMAN ss198136426 Jul 04, 2010 (132)
13 1000GENOMES ss218273883 Jul 14, 2010 (132)
14 1000GENOMES ss230455012 Jul 14, 2010 (132)
15 1000GENOMES ss238164616 Jul 15, 2010 (132)
16 GMI ss275745691 May 04, 2012 (137)
17 ILLUMINA ss480041003 May 04, 2012 (137)
18 ILLUMINA ss480049626 May 04, 2012 (137)
19 ILLUMINA ss480716610 Sep 08, 2015 (146)
20 ILLUMINA ss484818529 May 04, 2012 (137)
21 ILLUMINA ss536896769 Sep 08, 2015 (146)
22 TISHKOFF ss553870850 Apr 25, 2013 (138)
23 SSMP ss647627466 Apr 25, 2013 (138)
24 ILLUMINA ss778694899 Aug 21, 2014 (142)
25 ILLUMINA ss782855822 Aug 21, 2014 (142)
26 ILLUMINA ss783820265 Aug 21, 2014 (142)
27 ILLUMINA ss832109760 Apr 01, 2015 (144)
28 ILLUMINA ss832615424 Jul 12, 2019 (153)
29 ILLUMINA ss834153708 Aug 21, 2014 (142)
30 EVA-GONL ss974926834 Aug 21, 2014 (142)
31 JMKIDD_LAB ss1067721486 Aug 21, 2014 (142)
32 1000GENOMES ss1289960453 Aug 21, 2014 (142)
33 DDI ss1425739117 Apr 01, 2015 (144)
34 EVA_GENOME_DK ss1573929365 Apr 01, 2015 (144)
35 EVA_DECODE ss1584285085 Apr 01, 2015 (144)
36 EVA_UK10K_ALSPAC ss1599688117 Apr 01, 2015 (144)
37 EVA_UK10K_TWINSUK ss1642682150 Apr 01, 2015 (144)
38 EVA_MGP ss1710893839 Apr 01, 2015 (144)
39 ILLUMINA ss1751895901 Sep 08, 2015 (146)
40 HAMMER_LAB ss1794032438 Sep 08, 2015 (146)
41 WEILL_CORNELL_DGM ss1918138628 Feb 12, 2016 (147)
42 JJLAB ss2019581139 Sep 14, 2016 (149)
43 USC_VALOUEV ss2147584812 Dec 20, 2016 (150)
44 HUMAN_LONGEVITY ss2160571372 Dec 20, 2016 (150)
45 TOPMED ss2322753667 Dec 20, 2016 (150)
46 ILLUMINA ss2632487413 Nov 08, 2017 (151)
47 GRF ss2697489456 Nov 08, 2017 (151)
48 GNOMAD ss2752446530 Nov 08, 2017 (151)
49 AFFY ss2985501403 Nov 08, 2017 (151)
50 SWEGEN ss2986433967 Nov 08, 2017 (151)
51 BIOINF_KMB_FNS_UNIBA ss3023555916 Nov 08, 2017 (151)
52 TOPMED ss3070422135 Nov 08, 2017 (151)
53 CSHL ss3343358242 Nov 08, 2017 (151)
54 ILLUMINA ss3626043821 Oct 11, 2018 (152)
55 ILLUMINA ss3630525199 Oct 11, 2018 (152)
56 ILLUMINA ss3632883633 Oct 11, 2018 (152)
57 ILLUMINA ss3633577655 Oct 11, 2018 (152)
58 ILLUMINA ss3634311413 Oct 11, 2018 (152)
59 ILLUMINA ss3635271703 Oct 11, 2018 (152)
60 ILLUMINA ss3635987650 Oct 11, 2018 (152)
61 ILLUMINA ss3637022085 Oct 11, 2018 (152)
62 ILLUMINA ss3637741843 Oct 11, 2018 (152)
63 ILLUMINA ss3640018777 Oct 11, 2018 (152)
64 EGCUT_WGS ss3654504367 Jul 12, 2019 (153)
65 EVA_DECODE ss3686306477 Jul 12, 2019 (153)
66 ACPOP ss3726852747 Jul 12, 2019 (153)
67 ILLUMINA ss3744612373 Jul 12, 2019 (153)
68 EVA ss3745917689 Jul 12, 2019 (153)
69 ILLUMINA ss3772113939 Jul 12, 2019 (153)
70 PACBIO ss3783347140 Jul 12, 2019 (153)
71 PACBIO ss3789017714 Jul 12, 2019 (153)
72 PACBIO ss3793890187 Jul 12, 2019 (153)
73 KHV_HUMAN_GENOMES ss3798937406 Jul 12, 2019 (153)
74 EVA ss3826060945 Apr 25, 2020 (154)
75 SGDP_PRJ ss3848365587 Apr 25, 2020 (154)
76 KRGDB ss3893274610 Apr 25, 2020 (154)
77 KOGIC ss3943990799 Apr 25, 2020 (154)
78 EVA ss3984783067 Apr 27, 2021 (155)
79 EVA ss4016897264 Apr 27, 2021 (155)
80 TOPMED ss4441478699 Apr 27, 2021 (155)
81 TOMMO_GENOMICS ss5142836610 Apr 27, 2021 (155)
82 1000Genomes NC_000001.10 - 20996757 Oct 11, 2018 (152)
83 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 20996757 Oct 11, 2018 (152)
84 Genetic variation in the Estonian population NC_000001.10 - 20996757 Oct 11, 2018 (152)
85 The Danish reference pan genome NC_000001.10 - 20996757 Apr 25, 2020 (154)
86 gnomAD - Genomes NC_000001.11 - 20670264 Apr 27, 2021 (155)
87 Genome of the Netherlands Release 5 NC_000001.10 - 20996757 Apr 25, 2020 (154)
88 HapMap NC_000001.11 - 20670264 Apr 25, 2020 (154)
89 KOREAN population from KRGDB NC_000001.10 - 20996757 Apr 25, 2020 (154)
90 Korean Genome Project NC_000001.11 - 20670264 Apr 25, 2020 (154)
91 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 20996757 Apr 25, 2020 (154)
92 Northern Sweden NC_000001.10 - 20996757 Jul 12, 2019 (153)
93 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 20996757 Apr 27, 2021 (155)
94 Qatari NC_000001.10 - 20996757 Apr 25, 2020 (154)
95 SGDP_PRJ NC_000001.10 - 20996757 Apr 25, 2020 (154)
96 Siberian NC_000001.10 - 20996757 Apr 25, 2020 (154)
97 8.3KJPN NC_000001.10 - 20996757 Apr 27, 2021 (155)
98 TopMed NC_000001.11 - 20670264 Apr 27, 2021 (155)
99 UK 10K study - Twins NC_000001.10 - 20996757 Oct 11, 2018 (152)
100 ALFA NC_000001.11 - 20670264 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)
rs117615566 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss198136426 NC_000001.9:20869343:T:C NC_000001.11:20670263:T:C (self)
ss2160571372 NC_000001.11:20670263:T:C NC_000001.11:20670263:T:C (self)
ss108047590, ss160374800, ss275745691, ss480041003, ss1584285085 NC_000001.9:20869343:T:G NC_000001.11:20670263:T:G (self)
645776, 340642, 242615, 1418484, 147997, 452004, 10591, 137612, 8994, 180558, 382567, 101166, 805917, 340642, ss218273883, ss230455012, ss238164616, ss480049626, ss480716610, ss484818529, ss536896769, ss553870850, ss647627466, ss778694899, ss782855822, ss783820265, ss832109760, ss832615424, ss834153708, ss974926834, ss1067721486, ss1289960453, ss1425739117, ss1573929365, ss1599688117, ss1642682150, ss1710893839, ss1751895901, ss1794032438, ss1918138628, ss2019581139, ss2147584812, ss2322753667, ss2632487413, ss2697489456, ss2752446530, ss2985501403, ss2986433967, ss3343358242, ss3626043821, ss3630525199, ss3632883633, ss3633577655, ss3634311413, ss3635271703, ss3635987650, ss3637022085, ss3637741843, ss3640018777, ss3654504367, ss3726852747, ss3744612373, ss3745917689, ss3772113939, ss3783347140, ss3789017714, ss3793890187, ss3826060945, ss3848365587, ss3893274610, ss3984783067, ss4016897264, ss5142836610 NC_000001.10:20996756:T:G NC_000001.11:20670263:T:G (self)
4482163, 26703, 368800, 3195542, 5085034, 12231437408, ss2160571372, ss3023555916, ss3070422135, ss3686306477, ss3798937406, ss3943990799, ss4441478699 NC_000001.11:20670263:T:G NC_000001.11:20670263:T:G (self)
ss14458877 NT_004610.16:1800006:T:G NC_000001.11:20670263:T:G (self)
ss2415143, ss3240258, ss5620747, ss68760834, ss152536359, ss154739102, ss159102628, ss168870842 NT_004610.19:7676844:T:G NC_000001.11:20670263:T:G (self)
Help

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

No publications for rs1570663

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