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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.

rs2296226

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:20704553 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.122392 (32396/264690, TOPMED)
T=0.103531 (26033/251452, GnomAD_exome)
T=0.107684 (15093/140160, GnomAD) (+ 16 more)
T=0.102419 (12422/121286, ExAC)
T=0.05800 (3538/61002, ALFA)
T=0.26978 (4521/16758, 8.3KJPN)
T=0.10003 (1301/13006, GO-ESP)
T=0.1857 (930/5008, 1000G)
T=0.0424 (190/4480, Estonian)
T=0.0522 (201/3854, ALSPAC)
T=0.0467 (173/3708, TWINSUK)
T=0.3331 (976/2930, KOREAN)
T=0.3220 (588/1826, Korea1K)
T=0.043 (26/600, NorthernSweden)
T=0.041 (22/534, MGP)
T=0.065 (14/216, Qatari)
C=0.403 (79/196, SGDP_PRJ)
T=0.03 (1/40, GENOME_DK)
C=0.44 (8/18, Siberian)
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.20704553C>T
GRCh37.p13 chr 1 NC_000001.10:g.21031046C>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.1017G>A P [CCG] > P [CCA] Coding Sequence Variant
kinesin-like protein KIF17 isoform b NP_001116291.1:p.Pro339= P (Pro) > P (Pro) Synonymous Variant
KIF17 transcript variant 3 NM_001287212.2:c.717G>A P [CCG] > P [CCA] Coding Sequence Variant
kinesin-like protein KIF17 isoform c NP_001274141.1:p.Pro239= P (Pro) > P (Pro) Synonymous Variant
KIF17 transcript variant 1 NM_020816.4:c.1017G>A P [CCG] > P [CCA] Coding Sequence Variant
kinesin-like protein KIF17 isoform a NP_065867.2:p.Pro339= P (Pro) > P (Pro) 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 61002 C=0.94200 T=0.05800
European Sub 47740 C=0.95509 T=0.04491
African Sub 3772 C=0.8234 T=0.1766
African Others Sub 132 C=0.750 T=0.250
African American Sub 3640 C=0.8261 T=0.1739
Asian Sub 180 C=0.594 T=0.406
East Asian Sub 124 C=0.581 T=0.419
Other Asian Sub 56 C=0.62 T=0.38
Latin American 1 Sub 514 C=0.883 T=0.117
Latin American 2 Sub 712 C=0.836 T=0.164
South Asian Sub 114 C=0.947 T=0.053
Other Sub 7970 C=0.9408 T=0.0592


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=0.877608 T=0.122392
gnomAD - Exomes Global Study-wide 251452 C=0.896469 T=0.103531
gnomAD - Exomes European Sub 135396 C=0.952916 T=0.047084
gnomAD - Exomes Asian Sub 49004 C=0.80614 T=0.19386
gnomAD - Exomes American Sub 34584 C=0.82639 T=0.17361
gnomAD - Exomes African Sub 16250 C=0.78763 T=0.21237
gnomAD - Exomes Ashkenazi Jewish Sub 10078 C=0.97599 T=0.02401
gnomAD - Exomes Other Sub 6140 C=0.9249 T=0.0751
gnomAD - Genomes Global Study-wide 140160 C=0.892316 T=0.107684
gnomAD - Genomes European Sub 75926 C=0.95367 T=0.04633
gnomAD - Genomes African Sub 41992 C=0.79470 T=0.20530
gnomAD - Genomes American Sub 13650 C=0.89443 T=0.10557
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.9738 T=0.0262
gnomAD - Genomes East Asian Sub 3120 C=0.6128 T=0.3872
gnomAD - Genomes Other Sub 2148 C=0.8985 T=0.1015
ExAC Global Study-wide 121286 C=0.897581 T=0.102419
ExAC Europe Sub 73294 C=0.95296 T=0.04704
ExAC Asian Sub 25112 C=0.82001 T=0.17999
ExAC American Sub 11572 C=0.81127 T=0.18873
ExAC African Sub 10400 C=0.78798 T=0.21202
ExAC Other Sub 908 C=0.928 T=0.072
8.3KJPN JAPANESE Study-wide 16758 C=0.73022 T=0.26978
GO Exome Sequencing Project Global Study-wide 13006 C=0.89997 T=0.10003
GO Exome Sequencing Project European American Sub 8600 C=0.9517 T=0.0483
GO Exome Sequencing Project African American Sub 4406 C=0.7989 T=0.2011
1000Genomes Global Study-wide 5008 C=0.8143 T=0.1857
1000Genomes African Sub 1322 C=0.7700 T=0.2300
1000Genomes East Asian Sub 1008 C=0.6002 T=0.3998
1000Genomes Europe Sub 1006 C=0.9493 T=0.0507
1000Genomes South Asian Sub 978 C=0.920 T=0.080
1000Genomes American Sub 694 C=0.865 T=0.135
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9576 T=0.0424
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9478 T=0.0522
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9533 T=0.0467
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.6669 T=0.3331
Korean Genome Project KOREAN Study-wide 1826 C=0.6780 T=0.3220
Northern Sweden ACPOP Study-wide 600 C=0.957 T=0.043
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.959 T=0.041
Qatari Global Study-wide 216 C=0.935 T=0.065
SGDP_PRJ Global Study-wide 196 C=0.403 T=0.597
The Danish reference pan genome Danish Study-wide 40 C=0.97 T=0.03
Siberian Global Study-wide 18 C=0.44 T=0.56
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= T
GRCh38.p13 chr 1 NC_000001.11:g.20704553= NC_000001.11:g.20704553C>T
GRCh37.p13 chr 1 NC_000001.10:g.21031046= NC_000001.10:g.21031046C>T
KIF17 transcript variant 1 NM_020816.4:c.1017= NM_020816.4:c.1017G>A
KIF17 transcript variant 1 NM_020816.3:c.1017= NM_020816.3:c.1017G>A
KIF17 transcript variant 1 NM_020816.2:c.1017= NM_020816.2:c.1017G>A
KIF17 transcript variant 2 NM_001122819.3:c.1017= NM_001122819.3:c.1017G>A
KIF17 transcript variant 2 NM_001122819.2:c.1017= NM_001122819.2:c.1017G>A
KIF17 transcript variant 2 NM_001122819.1:c.1017= NM_001122819.1:c.1017G>A
KIF17 transcript variant 3 NM_001287212.2:c.717= NM_001287212.2:c.717G>A
KIF17 transcript variant 3 NM_001287212.1:c.717= NM_001287212.1:c.717G>A
kinesin-like protein KIF17 isoform a NP_065867.2:p.Pro339= NP_065867.2:p.Pro339=
kinesin-like protein KIF17 isoform b NP_001116291.1:p.Pro339= NP_001116291.1:p.Pro339=
kinesin-like protein KIF17 isoform c NP_001274141.1:p.Pro239= NP_001274141.1:p.Pro239=
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#.

77 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3240262 Sep 28, 2001 (100)
2 APPLERA_GI ss48429786 Mar 15, 2006 (126)
3 SI_EXO ss76884337 Dec 07, 2007 (129)
4 BGI ss102725888 Dec 01, 2009 (131)
5 GMI ss154739592 Dec 01, 2009 (131)
6 SEATTLESEQ ss159696549 Dec 01, 2009 (131)
7 BUSHMAN ss198137011 Jul 04, 2010 (132)
8 1000GENOMES ss217314499 Jul 14, 2010 (132)
9 1000GENOMES ss217390963 Jul 14, 2010 (132)
10 1000GENOMES ss217392213 Jul 14, 2010 (132)
11 1000GENOMES ss217400101 Jul 14, 2010 (132)
12 1000GENOMES ss217406101 Jul 14, 2010 (132)
13 1000GENOMES ss217410633 Jul 14, 2010 (132)
14 1000GENOMES ss217411215 Jul 14, 2010 (132)
15 1000GENOMES ss218274036 Jul 14, 2010 (132)
16 1000GENOMES ss230455135 Jul 14, 2010 (132)
17 1000GENOMES ss238164714 Jul 15, 2010 (132)
18 GMI ss275745805 May 04, 2012 (137)
19 NHLBI-ESP ss341941940 May 09, 2011 (134)
20 ILLUMINA ss482216366 May 04, 2012 (137)
21 ILLUMINA ss483471559 May 04, 2012 (137)
22 1000GENOMES ss489726702 May 04, 2012 (137)
23 CLINSEQ_SNP ss491587978 May 04, 2012 (137)
24 TISHKOFF ss553871185 Apr 25, 2013 (138)
25 SSMP ss647627665 Apr 25, 2013 (138)
26 ILLUMINA ss779508043 Sep 08, 2015 (146)
27 ILLUMINA ss782179144 Sep 08, 2015 (146)
28 ILLUMINA ss834978362 Sep 08, 2015 (146)
29 JMKIDD_LAB ss974433783 Aug 21, 2014 (142)
30 EVA-GONL ss974927133 Aug 21, 2014 (142)
31 JMKIDD_LAB ss1067417606 Aug 21, 2014 (142)
32 JMKIDD_LAB ss1067721693 Aug 21, 2014 (142)
33 1000GENOMES ss1289961619 Aug 21, 2014 (142)
34 EVA_GENOME_DK ss1573929569 Apr 01, 2015 (144)
35 EVA_DECODE ss1584285384 Apr 01, 2015 (144)
36 EVA_UK10K_ALSPAC ss1599688739 Apr 01, 2015 (144)
37 EVA_UK10K_TWINSUK ss1642682772 Apr 01, 2015 (144)
38 EVA_EXAC ss1685368819 Apr 01, 2015 (144)
39 EVA_MGP ss1710893887 Apr 01, 2015 (144)
40 HAMMER_LAB ss1794033720 Sep 08, 2015 (146)
41 WEILL_CORNELL_DGM ss1918138977 Feb 12, 2016 (147)
42 JJLAB ss2019581299 Sep 14, 2016 (149)
43 ILLUMINA ss2094841887 Dec 20, 2016 (150)
44 ILLUMINA ss2094955252 Dec 20, 2016 (150)
45 USC_VALOUEV ss2147585001 Dec 20, 2016 (150)
46 HUMAN_LONGEVITY ss2160573746 Dec 20, 2016 (150)
47 TOPMED ss2322755973 Dec 20, 2016 (150)
48 SYSTEMSBIOZJU ss2624307125 Nov 08, 2017 (151)
49 ILLUMINA ss2632487480 Nov 08, 2017 (151)
50 GRF ss2697489623 Nov 08, 2017 (151)
51 GNOMAD ss2731219281 Nov 08, 2017 (151)
52 GNOMAD ss2746248402 Nov 08, 2017 (151)
53 GNOMAD ss2752449670 Nov 08, 2017 (151)
54 SWEGEN ss2986434454 Nov 08, 2017 (151)
55 TOPMED ss3070428862 Nov 08, 2017 (151)
56 CSHL ss3343358393 Nov 08, 2017 (151)
57 ILLUMINA ss3630525261 Oct 11, 2018 (152)
58 BIOINF_KMB_FNS_UNIBA ss3645030744 Oct 11, 2018 (152)
59 OMUKHERJEE_ADBS ss3646226231 Oct 11, 2018 (152)
60 ILLUMINA ss3651388989 Oct 11, 2018 (152)
61 EGCUT_WGS ss3654504864 Jul 12, 2019 (153)
62 EVA_DECODE ss3686307071 Jul 12, 2019 (153)
63 ACPOP ss3726853021 Jul 12, 2019 (153)
64 EVA ss3745918092 Jul 12, 2019 (153)
65 KHV_HUMAN_GENOMES ss3798937797 Jul 12, 2019 (153)
66 EVA ss3823573198 Apr 25, 2020 (154)
67 EVA ss3825556539 Apr 25, 2020 (154)
68 EVA ss3826061122 Apr 25, 2020 (154)
69 SGDP_PRJ ss3848366223 Apr 25, 2020 (154)
70 KRGDB ss3893275289 Apr 25, 2020 (154)
71 KOGIC ss3943991484 Apr 25, 2020 (154)
72 FSA-LAB ss3983921297 Apr 27, 2021 (155)
73 EVA ss3986009518 Apr 27, 2021 (155)
74 EVA ss3986105352 Apr 27, 2021 (155)
75 TOPMED ss4441487485 Apr 27, 2021 (155)
76 TOMMO_GENOMICS ss5142837859 Apr 27, 2021 (155)
77 EVA ss5236865767 Apr 27, 2021 (155)
78 1000Genomes NC_000001.10 - 21031046 Oct 11, 2018 (152)
79 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 21031046 Oct 11, 2018 (152)
80 Genetic variation in the Estonian population NC_000001.10 - 21031046 Oct 11, 2018 (152)
81 ExAC NC_000001.10 - 21031046 Oct 11, 2018 (152)
82 The Danish reference pan genome NC_000001.10 - 21031046 Apr 25, 2020 (154)
83 gnomAD - Genomes NC_000001.11 - 20704553 Apr 27, 2021 (155)
84 gnomAD - Exomes NC_000001.10 - 21031046 Jul 12, 2019 (153)
85 GO Exome Sequencing Project NC_000001.10 - 21031046 Oct 11, 2018 (152)
86 KOREAN population from KRGDB NC_000001.10 - 21031046 Apr 25, 2020 (154)
87 Korean Genome Project NC_000001.11 - 20704553 Apr 25, 2020 (154)
88 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 21031046 Apr 25, 2020 (154)
89 Northern Sweden NC_000001.10 - 21031046 Jul 12, 2019 (153)
90 Qatari NC_000001.10 - 21031046 Apr 25, 2020 (154)
91 SGDP_PRJ NC_000001.10 - 21031046 Apr 25, 2020 (154)
92 Siberian NC_000001.10 - 21031046 Apr 25, 2020 (154)
93 8.3KJPN NC_000001.10 - 21031046 Apr 27, 2021 (155)
94 TopMed NC_000001.11 - 20704553 Apr 27, 2021 (155)
95 UK 10K study - Twins NC_000001.10 - 21031046 Oct 11, 2018 (152)
96 ALFA NC_000001.11 - 20704553 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
ss198137011, ss217314499, ss217390963, ss217392213, ss217400101, ss217406101, ss217410633, ss217411215, ss275745805, ss482216366, ss491587978, ss1584285384, ss2094841887 NC_000001.9:20903632:C:T NC_000001.11:20704552:C:T (self)
646989, 341324, 243112, 4552483, 1418609, 232834, 31910, 452683, 10639, 137886, 180907, 383203, 101355, 807166, 341324, ss218274036, ss230455135, ss238164714, ss341941940, ss483471559, ss489726702, ss553871185, ss647627665, ss779508043, ss782179144, ss834978362, ss974433783, ss974927133, ss1067417606, ss1067721693, ss1289961619, ss1573929569, ss1599688739, ss1642682772, ss1685368819, ss1710893887, ss1794033720, ss1918138977, ss2019581299, ss2094955252, ss2147585001, ss2322755973, ss2624307125, ss2632487480, ss2697489623, ss2731219281, ss2746248402, ss2752449670, ss2986434454, ss3343358393, ss3630525261, ss3646226231, ss3651388989, ss3654504864, ss3726853021, ss3745918092, ss3823573198, ss3825556539, ss3826061122, ss3848366223, ss3893275289, ss3983921297, ss3986009518, ss3986105352, ss5142837859 NC_000001.10:21031045:C:T NC_000001.11:20704552:C:T (self)
4489538, 369485, 3201197, 5093820, 2446869267, ss2160573746, ss3070428862, ss3645030744, ss3686307071, ss3798937797, ss3943991484, ss4441487485, ss5236865767 NC_000001.11:20704552:C:T NC_000001.11:20704552:C:T (self)
ss76884337 NT_004610.18:3855387:C:T NC_000001.11:20704552:C:T (self)
ss3240262, ss48429786, ss102725888, ss154739592, ss159696549 NT_004610.19:7711133:C:T NC_000001.11:20704552: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.

No publications for rs2296226

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