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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.

rs114221851

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:20704474 (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=0.000008 (2/264690, TOPMED)
A=0.000136 (34/250844, GnomAD_exome)
A=0.000014 (2/140282, GnomAD) (+ 7 more)
A=0.000135 (16/118168, ExAC)
A=0.00075 (59/78696, PAGE_STUDY)
A=0.00005 (1/21104, ALFA)
A=0.00591 (99/16760, 8.3KJPN)
A=0.0002 (1/5008, 1000G)
A=0.0068 (20/2922, KOREAN)
A=0.0061 (11/1818, Korea1K)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
KIF17 : Stop Gained
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.20704474G>A
GRCh37.p13 chr 1 NC_000001.10:g.21030967G>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.1096C>T Q [CAG] > * [TAG] Coding Sequence Variant
kinesin-like protein KIF17 isoform b NP_001116291.1:p.Gln366Ter Q (Gln) > * (Ter) Stop Gained
KIF17 transcript variant 3 NM_001287212.2:c.796C>T Q [CAG] > * [TAG] Coding Sequence Variant
kinesin-like protein KIF17 isoform c NP_001274141.1:p.Gln266Ter Q (Gln) > * (Ter) Stop Gained
KIF17 transcript variant 1 NM_020816.4:c.1096C>T Q [CAG] > * [TAG] Coding Sequence Variant
kinesin-like protein KIF17 isoform a NP_065867.2:p.Gln366Ter Q (Gln) > * (Ter) Stop Gained
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 21104 G=0.99995 A=0.00005
European Sub 15912 G=1.00000 A=0.00000
African Sub 3332 G=0.9997 A=0.0003
African Others Sub 114 G=1.000 A=0.000
African American Sub 3218 G=0.9997 A=0.0003
Asian Sub 146 G=1.000 A=0.000
East Asian Sub 120 G=1.000 A=0.000
Other Asian Sub 26 G=1.00 A=0.00
Latin American 1 Sub 146 G=1.000 A=0.000
Latin American 2 Sub 610 G=1.000 A=0.000
South Asian Sub 104 G=1.000 A=0.000
Other Sub 854 G=1.000 A=0.000


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=0.999992 A=0.000008
gnomAD - Exomes Global Study-wide 250844 G=0.999864 A=0.000136
gnomAD - Exomes European Sub 134872 G=1.000000 A=0.000000
gnomAD - Exomes Asian Sub 48998 G=0.99933 A=0.00067
gnomAD - Exomes American Sub 34542 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 16240 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10066 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6126 G=0.9998 A=0.0002
gnomAD - Genomes Global Study-wide 140282 G=0.999986 A=0.000014
gnomAD - Genomes European Sub 75954 G=1.00000 A=0.00000
gnomAD - Genomes African Sub 42054 G=1.00000 A=0.00000
gnomAD - Genomes American Sub 13666 G=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3134 G=0.9994 A=0.0006
gnomAD - Genomes Other Sub 2152 G=1.0000 A=0.0000
ExAC Global Study-wide 118168 G=0.999865 A=0.000135
ExAC Europe Sub 71230 G=1.00000 A=0.00000
ExAC Asian Sub 24642 G=0.99935 A=0.00065
ExAC American Sub 11232 G=1.00000 A=0.00000
ExAC African Sub 10188 G=1.00000 A=0.00000
ExAC Other Sub 876 G=1.000 A=0.000
The PAGE Study Global Study-wide 78696 G=0.99925 A=0.00075
The PAGE Study AfricanAmerican Sub 32512 G=1.00000 A=0.00000
The PAGE Study Mexican Sub 10810 G=1.00000 A=0.00000
The PAGE Study Asian Sub 8318 G=0.9933 A=0.0067
The PAGE Study PuertoRican Sub 7918 G=1.0000 A=0.0000
The PAGE Study NativeHawaiian Sub 4534 G=0.9993 A=0.0007
The PAGE Study Cuban Sub 4228 G=1.0000 A=0.0000
The PAGE Study Dominican Sub 3828 G=1.0000 A=0.0000
The PAGE Study CentralAmerican Sub 2450 G=1.0000 A=0.0000
The PAGE Study SouthAmerican Sub 1982 G=1.0000 A=0.0000
The PAGE Study NativeAmerican Sub 1260 G=1.0000 A=0.0000
The PAGE Study SouthAsian Sub 856 G=1.000 A=0.000
8.3KJPN JAPANESE Study-wide 16760 G=0.99409 A=0.00591
1000Genomes Global Study-wide 5008 G=0.9998 A=0.0002
1000Genomes African Sub 1322 G=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 G=0.9990 A=0.0010
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=1.000 A=0.000
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9932 A=0.0068
Korean Genome Project KOREAN Study-wide 1818 G=0.9939 A=0.0061
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.20704474= NC_000001.11:g.20704474G>A
GRCh37.p13 chr 1 NC_000001.10:g.21030967= NC_000001.10:g.21030967G>A
KIF17 transcript variant 1 NM_020816.4:c.1096= NM_020816.4:c.1096C>T
KIF17 transcript variant 1 NM_020816.3:c.1096= NM_020816.3:c.1096C>T
KIF17 transcript variant 1 NM_020816.2:c.1096= NM_020816.2:c.1096C>T
KIF17 transcript variant 2 NM_001122819.3:c.1096= NM_001122819.3:c.1096C>T
KIF17 transcript variant 2 NM_001122819.2:c.1096= NM_001122819.2:c.1096C>T
KIF17 transcript variant 2 NM_001122819.1:c.1096= NM_001122819.1:c.1096C>T
KIF17 transcript variant 3 NM_001287212.2:c.796= NM_001287212.2:c.796C>T
KIF17 transcript variant 3 NM_001287212.1:c.796= NM_001287212.1:c.796C>T
kinesin-like protein KIF17 isoform a NP_065867.2:p.Gln366= NP_065867.2:p.Gln366Ter
kinesin-like protein KIF17 isoform b NP_001116291.1:p.Gln366= NP_001116291.1:p.Gln366Ter
kinesin-like protein KIF17 isoform c NP_001274141.1:p.Gln266= NP_001274141.1:p.Gln266Ter
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#.

27 SubSNP, 10 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss217400088 Jul 14, 2010 (132)
2 1000GENOMES ss238164712 Jul 15, 2010 (132)
3 1000GENOMES ss489726696 May 04, 2012 (137)
4 1000GENOMES ss1289961613 Aug 21, 2014 (142)
5 EVA_EXAC ss1685368797 Apr 01, 2015 (144)
6 ILLUMINA ss1958250604 Feb 12, 2016 (147)
7 ILLUMINA ss2094841886 Dec 20, 2016 (150)
8 ILLUMINA ss2094955250 Dec 20, 2016 (150)
9 HUMAN_LONGEVITY ss2160573737 Dec 20, 2016 (150)
10 GRF ss2697489621 Nov 08, 2017 (151)
11 GNOMAD ss2731219256 Nov 08, 2017 (151)
12 AFFY ss2984848634 Nov 08, 2017 (151)
13 ILLUMINA ss3021064037 Nov 08, 2017 (151)
14 TOPMED ss3070428836 Nov 08, 2017 (151)
15 ILLUMINA ss3625527979 Oct 11, 2018 (152)
16 ILLUMINA ss3651388985 Oct 11, 2018 (152)
17 ILLUMINA ss3651388986 Oct 11, 2018 (152)
18 ILLUMINA ss3653622427 Oct 11, 2018 (152)
19 ILLUMINA ss3725003895 Jul 12, 2019 (153)
20 EVA ss3745918089 Jul 12, 2019 (153)
21 PAGE_CC ss3770791595 Jul 12, 2019 (153)
22 KRGDB ss3893275285 Apr 25, 2020 (154)
23 KOGIC ss3943991480 Apr 25, 2020 (154)
24 EVA ss3986105348 Apr 27, 2021 (155)
25 GNOMAD ss3989503506 Apr 27, 2021 (155)
26 TOPMED ss4441487456 Apr 27, 2021 (155)
27 TOMMO_GENOMICS ss5142837853 Apr 27, 2021 (155)
28 1000Genomes NC_000001.10 - 21030967 Oct 11, 2018 (152)
29 ExAC NC_000001.10 - 21030967 Oct 11, 2018 (152)
30 gnomAD - Genomes NC_000001.11 - 20704474 Apr 27, 2021 (155)
31 gnomAD - Exomes NC_000001.10 - 21030967 Jul 12, 2019 (153)
32 KOREAN population from KRGDB NC_000001.10 - 21030967 Apr 25, 2020 (154)
33 Korean Genome Project NC_000001.11 - 20704474 Apr 25, 2020 (154)
34 The PAGE Study NC_000001.11 - 20704474 Jul 12, 2019 (153)
35 8.3KJPN NC_000001.10 - 21030967 Apr 27, 2021 (155)
36 TopMed NC_000001.11 - 20704474 Apr 27, 2021 (155)
37 ALFA NC_000001.11 - 20704474 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)
rs117023971 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss217400088, ss2094841886 NC_000001.9:20903553:G:A NC_000001.11:20704473:G:A (self)
646983, 4552460, 232806, 452679, 807160, ss238164712, ss489726696, ss1289961613, ss1685368797, ss1958250604, ss2094955250, ss2697489621, ss2731219256, ss2984848634, ss3021064037, ss3625527979, ss3651388985, ss3651388986, ss3653622427, ss3745918089, ss3893275285, ss3986105348, ss5142837853 NC_000001.10:21030966:G:A NC_000001.11:20704473:G:A (self)
4489518, 369481, 13064, 3201174, 5093791, 13146296940, ss2160573737, ss3070428836, ss3725003895, ss3770791595, ss3943991480, ss3989503506, ss4441487456 NC_000001.11:20704473:G:A NC_000001.11:20704473: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 rs114221851

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