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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.

rs35595233

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:20672080 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.025490 (6747/264690, TOPMED)
A=0.013942 (3506/251464, GnomAD_exome)
A=0.023253 (3260/140194, GnomAD) (+ 13 more)
A=0.015063 (1828/121360, ExAC)
A=0.00620 (348/56110, ALFA)
A=0.03514 (589/16760, 8.3KJPN)
A=0.02507 (326/13006, GO-ESP)
A=0.0375 (188/5008, 1000G)
A=0.0005 (2/3854, ALSPAC)
A=0.0005 (2/3708, TWINSUK)
A=0.0264 (77/2922, KOREAN)
A=0.0180 (33/1832, Korea1K)
A=0.019 (12/616, Vietnamese)
A=0.004 (2/534, MGP)
A=0.023 (5/216, Qatari)
G=0.42 (20/48, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
KIF17 : Synonymous 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.20672080G>A
GRCh37.p13 chr 1 NC_000001.10:g.20998573G>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.2580C>T L [CTC] > L [CTT] Coding Sequence Variant
kinesin-like protein KIF17 isoform b NP_001116291.1:p.Leu860= L (Leu) > L (Leu) Synonymous Variant
KIF17 transcript variant 3 NM_001287212.2:c.2280C>T L [CTC] > L [CTT] Coding Sequence Variant
kinesin-like protein KIF17 isoform c NP_001274141.1:p.Leu760= L (Leu) > L (Leu) Synonymous Variant
KIF17 transcript variant 1 NM_020816.4:c.2580C>T L [CTC] > L [CTT] Coding Sequence Variant
kinesin-like protein KIF17 isoform a NP_065867.2:p.Leu860= L (Leu) > L (Leu) Synonymous 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 56110 G=0.99380 A=0.00620
European Sub 43224 G=0.99954 A=0.00046
African Sub 3782 G=0.9318 A=0.0682
African Others Sub 132 G=0.879 A=0.121
African American Sub 3650 G=0.9337 A=0.0663
Asian Sub 184 G=0.978 A=0.022
East Asian Sub 126 G=0.976 A=0.024
Other Asian Sub 58 G=0.98 A=0.02
Latin American 1 Sub 522 G=0.979 A=0.021
Latin American 2 Sub 718 G=0.990 A=0.010
South Asian Sub 114 G=0.956 A=0.044
Other Sub 7566 G=0.9943 A=0.0057


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=0.974510 A=0.025490
gnomAD - Exomes Global Study-wide 251464 G=0.986058 A=0.013942
gnomAD - Exomes European Sub 135400 G=0.999586 A=0.000414
gnomAD - Exomes Asian Sub 49006 G=0.96060 A=0.03940
gnomAD - Exomes American Sub 34590 G=0.99162 A=0.00838
gnomAD - Exomes African Sub 16254 G=0.92734 A=0.07266
gnomAD - Exomes Ashkenazi Jewish Sub 10078 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6136 G=0.9922 A=0.0078
gnomAD - Genomes Global Study-wide 140194 G=0.976747 A=0.023253
gnomAD - Genomes European Sub 75944 G=0.99959 A=0.00041
gnomAD - Genomes African Sub 41986 G=0.92869 A=0.07131
gnomAD - Genomes American Sub 13658 G=0.98931 A=0.01069
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3132 G=0.9840 A=0.0160
gnomAD - Genomes Other Sub 2152 G=0.9819 A=0.0181
ExAC Global Study-wide 121360 G=0.984937 A=0.015063
ExAC Europe Sub 73324 G=0.99967 A=0.00033
ExAC Asian Sub 25162 G=0.96089 A=0.03911
ExAC American Sub 11564 G=0.99118 A=0.00882
ExAC African Sub 10404 G=0.93195 A=0.06805
ExAC Other Sub 906 G=0.989 A=0.011
8.3KJPN JAPANESE Study-wide 16760 G=0.96486 A=0.03514
GO Exome Sequencing Project Global Study-wide 13006 G=0.97493 A=0.02507
GO Exome Sequencing Project European American Sub 8600 G=0.9993 A=0.0007
GO Exome Sequencing Project African American Sub 4406 G=0.9274 A=0.0726
1000Genomes Global Study-wide 5008 G=0.9625 A=0.0375
1000Genomes African Sub 1322 G=0.9312 A=0.0688
1000Genomes East Asian Sub 1008 G=0.9653 A=0.0347
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=0.945 A=0.055
1000Genomes American Sub 694 G=0.988 A=0.012
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9995 A=0.0005
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9995 A=0.0005
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9736 A=0.0264
Korean Genome Project KOREAN Study-wide 1832 G=0.9820 A=0.0180
A Vietnamese Genetic Variation Database Global Study-wide 616 G=0.981 A=0.019
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.996 A=0.004
Qatari Global Study-wide 216 G=0.977 A=0.023
SGDP_PRJ Global Study-wide 48 G=0.42 A=0.58
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
GRCh38.p13 chr 1 NC_000001.11:g.20672080= NC_000001.11:g.20672080G>A
GRCh37.p13 chr 1 NC_000001.10:g.20998573= NC_000001.10:g.20998573G>A
KIF17 transcript variant 1 NM_020816.4:c.2580= NM_020816.4:c.2580C>T
KIF17 transcript variant 1 NM_020816.3:c.2580= NM_020816.3:c.2580C>T
KIF17 transcript variant 1 NM_020816.2:c.2580= NM_020816.2:c.2580C>T
KIF17 transcript variant 2 NM_001122819.3:c.2580= NM_001122819.3:c.2580C>T
KIF17 transcript variant 2 NM_001122819.2:c.2580= NM_001122819.2:c.2580C>T
KIF17 transcript variant 2 NM_001122819.1:c.2580= NM_001122819.1:c.2580C>T
KIF17 transcript variant 3 NM_001287212.2:c.2280= NM_001287212.2:c.2280C>T
KIF17 transcript variant 3 NM_001287212.1:c.2280= NM_001287212.1:c.2280C>T
kinesin-like protein KIF17 isoform a NP_065867.2:p.Leu860= NP_065867.2:p.Leu860=
kinesin-like protein KIF17 isoform b NP_001116291.1:p.Leu860= NP_001116291.1:p.Leu860=
kinesin-like protein KIF17 isoform c NP_001274141.1:p.Leu760= NP_001274141.1:p.Leu760=
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#.

54 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 APPLERA_GI ss48429792 Mar 15, 2006 (126)
2 SEATTLESEQ ss159696540 Dec 01, 2009 (131)
3 1000GENOMES ss217390932 Jul 14, 2010 (132)
4 1000GENOMES ss217392179 Jul 14, 2010 (132)
5 1000GENOMES ss217400071 Jul 14, 2010 (132)
6 1000GENOMES ss217405981 Jul 14, 2010 (132)
7 1000GENOMES ss217411125 Jul 14, 2010 (132)
8 1000GENOMES ss218273897 Jul 14, 2010 (132)
9 1000GENOMES ss238164623 Jul 15, 2010 (132)
10 NHLBI-ESP ss341941801 May 09, 2011 (134)
11 ILLUMINA ss480855348 May 04, 2012 (137)
12 ILLUMINA ss482215527 May 04, 2012 (137)
13 1000GENOMES ss489726617 May 04, 2012 (137)
14 CLINSEQ_SNP ss491587958 May 04, 2012 (137)
15 ILLUMINA ss533985314 Sep 08, 2015 (146)
16 SSMP ss647627477 Apr 25, 2013 (138)
17 ILLUMINA ss779799726 Sep 08, 2015 (146)
18 ILLUMINA ss781335183 Sep 08, 2015 (146)
19 ILLUMINA ss835275718 Sep 08, 2015 (146)
20 JMKIDD_LAB ss1067417581 Aug 21, 2014 (142)
21 1000GENOMES ss1289960517 Aug 21, 2014 (142)
22 EVA_UK10K_ALSPAC ss1599688148 Apr 01, 2015 (144)
23 EVA_UK10K_TWINSUK ss1642682181 Apr 01, 2015 (144)
24 EVA_EXAC ss1685368330 Apr 01, 2015 (144)
25 EVA_MGP ss1710893843 Apr 01, 2015 (144)
26 HAMMER_LAB ss1794032452 Sep 08, 2015 (146)
27 WEILL_CORNELL_DGM ss1918138649 Feb 12, 2016 (147)
28 HUMAN_LONGEVITY ss2160571485 Dec 20, 2016 (150)
29 TOPMED ss2322753785 Dec 20, 2016 (150)
30 ILLUMINA ss2632487421 Nov 08, 2017 (151)
31 GRF ss2697489462 Nov 08, 2017 (151)
32 GNOMAD ss2731218554 Nov 08, 2017 (151)
33 GNOMAD ss2746248144 Nov 08, 2017 (151)
34 GNOMAD ss2752446675 Nov 08, 2017 (151)
35 TOPMED ss3070422446 Nov 08, 2017 (151)
36 ILLUMINA ss3626043838 Oct 11, 2018 (152)
37 ILLUMINA ss3630525207 Oct 11, 2018 (152)
38 ILLUMINA ss3641576871 Oct 11, 2018 (152)
39 OMUKHERJEE_ADBS ss3646226213 Oct 11, 2018 (152)
40 EVA_DECODE ss3686306512 Jul 12, 2019 (153)
41 EVA ss3745917716 Jul 12, 2019 (153)
42 KHV_HUMAN_GENOMES ss3798937428 Jul 12, 2019 (153)
43 EVA ss3823573072 Apr 25, 2020 (154)
44 EVA ss3825556502 Apr 25, 2020 (154)
45 EVA ss3826060955 Apr 25, 2020 (154)
46 SGDP_PRJ ss3848365612 Apr 25, 2020 (154)
47 KRGDB ss3893274639 Apr 25, 2020 (154)
48 KOGIC ss3943990828 Apr 25, 2020 (154)
49 FSA-LAB ss3983921258 Apr 27, 2021 (155)
50 EVA ss3986009514 Apr 27, 2021 (155)
51 EVA ss3986105274 Apr 27, 2021 (155)
52 TOPMED ss4441479148 Apr 27, 2021 (155)
53 TOMMO_GENOMICS ss5142836670 Apr 27, 2021 (155)
54 EVA ss5236865749 Apr 27, 2021 (155)
55 1000Genomes NC_000001.10 - 20998573 Oct 11, 2018 (152)
56 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 20998573 Oct 11, 2018 (152)
57 ExAC NC_000001.10 - 20998573 Oct 11, 2018 (152)
58 gnomAD - Genomes NC_000001.11 - 20672080 Apr 27, 2021 (155)
59 gnomAD - Exomes NC_000001.10 - 20998573 Jul 12, 2019 (153)
60 GO Exome Sequencing Project NC_000001.10 - 20998573 Oct 11, 2018 (152)
61 KOREAN population from KRGDB NC_000001.10 - 20998573 Apr 25, 2020 (154)
62 Korean Genome Project NC_000001.11 - 20672080 Apr 25, 2020 (154)
63 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 20998573 Apr 25, 2020 (154)
64 Qatari NC_000001.10 - 20998573 Apr 25, 2020 (154)
65 SGDP_PRJ NC_000001.10 - 20998573 Apr 25, 2020 (154)
66 8.3KJPN NC_000001.10 - 20998573 Apr 27, 2021 (155)
67 TopMed NC_000001.11 - 20672080 Apr 27, 2021 (155)
68 UK 10K study - Twins NC_000001.10 - 20998573 Oct 11, 2018 (152)
69 A Vietnamese Genetic Variation Database NC_000001.10 - 20998573 Jul 12, 2019 (153)
70 ALFA NC_000001.11 - 20672080 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss217390932, ss217392179, ss217400071, ss217405981, ss217411125, ss482215527, ss491587958 NC_000001.9:20871159:G:A NC_000001.11:20672079:G:A (self)
645846, 340673, 4551966, 232088, 31784, 452033, 10595, 180579, 382592, 805977, 340673, 73104, ss218273897, ss238164623, ss341941801, ss480855348, ss489726617, ss533985314, ss647627477, ss779799726, ss781335183, ss835275718, ss1067417581, ss1289960517, ss1599688148, ss1642682181, ss1685368330, ss1710893843, ss1794032452, ss1918138649, ss2322753785, ss2632487421, ss2697489462, ss2731218554, ss2746248144, ss2752446675, ss3626043838, ss3630525207, ss3641576871, ss3646226213, ss3745917716, ss3823573072, ss3825556502, ss3826060955, ss3848365612, ss3893274639, ss3983921258, ss3986009514, ss3986105274, ss5142836670 NC_000001.10:20998572:G:A NC_000001.11:20672079:G:A (self)
4482522, 368829, 3195835, 5085483, 10460135965, ss2160571485, ss3070422446, ss3686306512, ss3798937428, ss3943990828, ss4441479148, ss5236865749 NC_000001.11:20672079:G:A NC_000001.11:20672079:G:A (self)
ss48429792, ss159696540 NT_004610.19:7678660:G:A NC_000001.11:20672079:G:A (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 rs35595233

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