Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.


Current Build 155

Released April 9, 2021

Homo sapiens
chr1:20672075 (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.

Variation Type
SNV Single Nucleotide Variation
A=0.000034 (9/264690, TOPMED)
A=0.000052 (13/251462, GnomAD_exome)
A=0.000043 (6/140260, GnomAD) (+ 9 more)
A=0.000058 (7/121366, ExAC)
A=0.00008 (6/79476, ALFA)
A=0.00015 (12/78682, PAGE_STUDY)
A=0.00078 (13/16760, 8.3KJPN)
A=0.0004 (2/5008, 1000G)
A=0.0017 (5/2922, KOREAN)
A=0.0016 (3/1832, Korea1K)
A=0.003 (2/792, PRJEB37584)
A=0.010 (6/616, Vietnamese)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
KIF17 : Missense Variant
0 citations
Genomic View
See rs on genome

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.20672075T>A
GRCh37.p13 chr 1 NC_000001.10:g.20998568T>A
Gene: KIF17, kinesin family member 17 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
KIF17 transcript variant 2 NM_001122819.3:c.2585A>T E [GAG] > V [GTG] Coding Sequence Variant
kinesin-like protein KIF17 isoform b NP_001116291.1:p.Glu862Val E (Glu) > V (Val) Missense Variant
KIF17 transcript variant 3 NM_001287212.2:c.2285A>T E [GAG] > V [GTG] Coding Sequence Variant
kinesin-like protein KIF17 isoform c NP_001274141.1:p.Glu762Val E (Glu) > V (Val) Missense Variant
KIF17 transcript variant 1 NM_020816.4:c.2585A>T E [GAG] > V [GTG] Coding Sequence Variant
kinesin-like protein KIF17 isoform a NP_065867.2:p.Glu862Val E (Glu) > V (Val) Missense Variant

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 79476 T=0.99992 A=0.00008
European Sub 69388 T=1.00000 A=0.00000
African Sub 3698 T=1.0000 A=0.0000
African Others Sub 166 T=1.000 A=0.000
African American Sub 3532 T=1.0000 A=0.0000
Asian Sub 3274 T=0.9982 A=0.0018
East Asian Sub 2648 T=0.9977 A=0.0023
Other Asian Sub 626 T=1.000 A=0.000
Latin American 1 Sub 436 T=1.000 A=0.000
Latin American 2 Sub 928 T=1.000 A=0.000
South Asian Sub 274 T=1.000 A=0.000
Other Sub 1478 T=1.0000 A=0.0000


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").

Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 T=0.999966 A=0.000034
gnomAD - Exomes Global Study-wide 251462 T=0.999948 A=0.000052
gnomAD - Exomes European Sub 135392 T=1.000000 A=0.000000
gnomAD - Exomes Asian Sub 49008 T=0.99973 A=0.00027
gnomAD - Exomes American Sub 34590 T=1.00000 A=0.00000
gnomAD - Exomes African Sub 16256 T=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10080 T=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6136 T=1.0000 A=0.0000
gnomAD - Genomes Global Study-wide 140260 T=0.999957 A=0.000043
gnomAD - Genomes European Sub 75962 T=1.00000 A=0.00000
gnomAD - Genomes African Sub 42034 T=1.00000 A=0.00000
gnomAD - Genomes American Sub 13654 T=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3134 T=0.9981 A=0.0019
gnomAD - Genomes Other Sub 2152 T=1.0000 A=0.0000
ExAC Global Study-wide 121366 T=0.999942 A=0.000058
ExAC Europe Sub 73328 T=1.00000 A=0.00000
ExAC Asian Sub 25164 T=0.99972 A=0.00028
ExAC American Sub 11564 T=1.00000 A=0.00000
ExAC African Sub 10404 T=1.00000 A=0.00000
ExAC Other Sub 906 T=1.000 A=0.000
The PAGE Study Global Study-wide 78682 T=0.99985 A=0.00015
The PAGE Study AfricanAmerican Sub 32504 T=1.00000 A=0.00000
The PAGE Study Mexican Sub 10810 T=1.00000 A=0.00000
The PAGE Study Asian Sub 8318 T=0.9987 A=0.0013
The PAGE Study PuertoRican Sub 7918 T=1.0000 A=0.0000
The PAGE Study NativeHawaiian Sub 4532 T=0.9998 A=0.0002
The PAGE Study Cuban Sub 4228 T=1.0000 A=0.0000
The PAGE Study Dominican Sub 3828 T=1.0000 A=0.0000
The PAGE Study CentralAmerican Sub 2446 T=1.0000 A=0.0000
The PAGE Study SouthAmerican Sub 1982 T=1.0000 A=0.0000
The PAGE Study NativeAmerican Sub 1260 T=1.0000 A=0.0000
The PAGE Study SouthAsian Sub 856 T=1.000 A=0.000
8.3KJPN JAPANESE Study-wide 16760 T=0.99922 A=0.00078
1000Genomes Global Study-wide 5008 T=0.9996 A=0.0004
1000Genomes African Sub 1322 T=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 T=0.9980 A=0.0020
1000Genomes Europe Sub 1006 T=1.0000 A=0.0000
1000Genomes South Asian Sub 978 T=1.000 A=0.000
1000Genomes American Sub 694 T=1.000 A=0.000
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.9983 A=0.0017
Korean Genome Project KOREAN Study-wide 1832 T=0.9984 A=0.0016
CNV burdens in cranial meningiomas Global Study-wide 792 T=0.997 A=0.003
CNV burdens in cranial meningiomas CRM Sub 792 T=0.997 A=0.003
A Vietnamese Genetic Variation Database Global Study-wide 616 T=0.990 A=0.010

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= A
GRCh38.p13 chr 1 NC_000001.11:g.20672075= NC_000001.11:g.20672075T>A
GRCh37.p13 chr 1 NC_000001.10:g.20998568= NC_000001.10:g.20998568T>A
KIF17 transcript variant 1 NM_020816.4:c.2585= NM_020816.4:c.2585A>T
KIF17 transcript variant 1 NM_020816.3:c.2585= NM_020816.3:c.2585A>T
KIF17 transcript variant 1 NM_020816.2:c.2585= NM_020816.2:c.2585A>T
KIF17 transcript variant 2 NM_001122819.3:c.2585= NM_001122819.3:c.2585A>T
KIF17 transcript variant 2 NM_001122819.2:c.2585= NM_001122819.2:c.2585A>T
KIF17 transcript variant 2 NM_001122819.1:c.2585= NM_001122819.1:c.2585A>T
KIF17 transcript variant 3 NM_001287212.2:c.2285= NM_001287212.2:c.2285A>T
KIF17 transcript variant 3 NM_001287212.1:c.2285= NM_001287212.1:c.2285A>T
kinesin-like protein KIF17 isoform a NP_065867.2:p.Glu862= NP_065867.2:p.Glu862Val
kinesin-like protein KIF17 isoform b NP_001116291.1:p.Glu862= NP_001116291.1:p.Glu862Val
kinesin-like protein KIF17 isoform c NP_001274141.1:p.Glu762= NP_001274141.1:p.Glu762Val

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#.

33 SubSNP, 12 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss217390928 Jul 14, 2010 (132)
2 1000GENOMES ss217392173 Jul 14, 2010 (132)
3 1000GENOMES ss488656136 May 04, 2012 (137)
4 EXOME_CHIP ss491288476 May 04, 2012 (137)
5 ILLUMINA ss783484259 Sep 08, 2015 (146)
6 1000GENOMES ss1289960516 Aug 21, 2014 (142)
7 EVA_EXAC ss1685368329 Apr 01, 2015 (144)
8 ILLUMINA ss1751895913 Sep 08, 2015 (146)
9 ILLUMINA ss1917724217 Feb 12, 2016 (147)
10 ILLUMINA ss1945987338 Feb 12, 2016 (147)
11 ILLUMINA ss1958250529 Feb 12, 2016 (147)
12 HUMAN_LONGEVITY ss2160571483 Dec 20, 2016 (150)
13 GNOMAD ss2731218553 Nov 08, 2017 (151)
14 GNOMAD ss2746248143 Nov 08, 2017 (151)
15 GNOMAD ss2752446674 Nov 08, 2017 (151)
16 TOPMED ss3070422445 Nov 08, 2017 (151)
17 ILLUMINA ss3625527809 Oct 11, 2018 (152)
18 ILLUMINA ss3626043837 Oct 11, 2018 (152)
19 ILLUMINA ss3634311420 Oct 11, 2018 (152)
20 ILLUMINA ss3640018784 Oct 11, 2018 (152)
21 ILLUMINA ss3644483197 Oct 11, 2018 (152)
22 ILLUMINA ss3744340965 Jul 12, 2019 (153)
23 ILLUMINA ss3744612380 Jul 12, 2019 (153)
24 EVA ss3745917715 Jul 12, 2019 (153)
25 PAGE_CC ss3770791545 Jul 12, 2019 (153)
26 ILLUMINA ss3772113946 Jul 12, 2019 (153)
27 KHV_HUMAN_GENOMES ss3798937427 Jul 12, 2019 (153)
28 KRGDB ss3893274638 Apr 25, 2020 (154)
29 KOGIC ss3943990827 Apr 25, 2020 (154)
30 EVA ss3984453478 Apr 27, 2021 (155)
31 TOPMED ss4441479147 Apr 27, 2021 (155)
32 TOMMO_GENOMICS ss5142836669 Apr 27, 2021 (155)
33 EVA ss5237261627 Apr 27, 2021 (155)
34 1000Genomes NC_000001.10 - 20998568 Oct 11, 2018 (152)
35 ExAC NC_000001.10 - 20998568 Oct 11, 2018 (152)
36 gnomAD - Genomes NC_000001.11 - 20672075 Apr 27, 2021 (155)
37 gnomAD - Exomes NC_000001.10 - 20998568 Jul 12, 2019 (153)
38 KOREAN population from KRGDB NC_000001.10 - 20998568 Apr 25, 2020 (154)
39 Korean Genome Project NC_000001.11 - 20672075 Apr 25, 2020 (154)
40 The PAGE Study NC_000001.11 - 20672075 Jul 12, 2019 (153)
41 CNV burdens in cranial meningiomas NC_000001.10 - 20998568 Apr 27, 2021 (155)
42 8.3KJPN NC_000001.10 - 20998568 Apr 27, 2021 (155)
43 TopMed NC_000001.11 - 20672075 Apr 27, 2021 (155)
44 A Vietnamese Genetic Variation Database NC_000001.10 - 20998568 Jul 12, 2019 (153)
45 ALFA NC_000001.11 - 20672075 Apr 27, 2021 (155)

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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss217390928, ss217392173 NC_000001.9:20871154:T:A NC_000001.11:20672074:T:A (self)
645845, 4551965, 232087, 452032, 2780, 805976, 73103, ss488656136, ss491288476, ss783484259, ss1289960516, ss1685368329, ss1751895913, ss1917724217, ss1945987338, ss1958250529, ss2731218553, ss2746248143, ss2752446674, ss3625527809, ss3626043837, ss3634311420, ss3640018784, ss3644483197, ss3744340965, ss3744612380, ss3745917715, ss3772113946, ss3893274638, ss3984453478, ss5142836669, ss5237261627 NC_000001.10:20998567:T:A NC_000001.11:20672074:T:A (self)
4482521, 368828, 13014, 3195834, 5085482, 13124444939, ss2160571483, ss3070422445, ss3770791545, ss3798937427, ss3943990827, ss4441479147 NC_000001.11:20672074:T:A NC_000001.11:20672074:T:A (self)

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

No publications for rs113995871


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