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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.

rs601329

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:20717668 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.329196 (87135/264690, TOPMED)
A=0.293309 (66827/227838, GnomAD_exome)
A=0.324891 (45460/139924, GnomAD) (+ 16 more)
A=0.286857 (30474/106234, ExAC)
A=0.31441 (14889/47356, ALFA)
A=0.17884 (2993/16736, 8.3KJPN)
A=0.33043 (4244/12844, GO-ESP)
A=0.2879 (1442/5008, 1000G)
A=0.2351 (1053/4478, Estonian)
A=0.2935 (1131/3854, ALSPAC)
A=0.2837 (1052/3708, TWINSUK)
A=0.1009 (294/2914, KOREAN)
A=0.282 (169/600, NorthernSweden)
A=0.187 (94/504, SGDP_PRJ)
A=0.245 (69/282, FINRISK)
A=0.384 (83/216, Qatari)
A=0.070 (15/214, Vietnamese)
A=0.18 (9/50, Siberian)
A=0.28 (11/40, GENOME_DK)
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.20717668A>G
GRCh37.p13 chr 1 NC_000001.10:g.21044161A>G
Gene: KIF17, kinesin family member 17 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
KIF17 transcript variant 3 NM_001287212.2:c.-389= N/A 5 Prime UTR Variant
KIF17 transcript variant 2 NM_001122819.3:c.39T>C R [CGT] > R [CGC] Coding Sequence Variant
kinesin-like protein KIF17 isoform b NP_001116291.1:p.Arg13= R (Arg) > R (Arg) Synonymous Variant
KIF17 transcript variant 1 NM_020816.4:c.39T>C R [CGT] > R [CGC] Coding Sequence Variant
kinesin-like protein KIF17 isoform a NP_065867.2:p.Arg13= R (Arg) > R (Arg) 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 47356 A=0.31441 G=0.68559
European Sub 35730 A=0.30568 G=0.69432
African Sub 3560 A=0.3646 G=0.6354
African Others Sub 122 A=0.451 G=0.549
African American Sub 3438 A=0.3615 G=0.6385
Asian Sub 168 A=0.179 G=0.821
East Asian Sub 112 A=0.170 G=0.830
Other Asian Sub 56 A=0.20 G=0.80
Latin American 1 Sub 492 A=0.368 G=0.632
Latin American 2 Sub 628 A=0.330 G=0.670
South Asian Sub 98 A=0.31 G=0.69
Other Sub 6680 A=0.3325 G=0.6675


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 A=0.329196 G=0.670804
gnomAD - Exomes Global Study-wide 227838 A=0.293309 G=0.706691
gnomAD - Exomes European Sub 117474 A=0.297606 G=0.702394
gnomAD - Exomes Asian Sub 47528 A=0.20258 G=0.79742
gnomAD - Exomes American Sub 33642 A=0.32144 G=0.67856
gnomAD - Exomes African Sub 13840 A=0.38634 G=0.61366
gnomAD - Exomes Ashkenazi Jewish Sub 9662 A=0.4417 G=0.5583
gnomAD - Exomes Other Sub 5692 A=0.3178 G=0.6822
gnomAD - Genomes Global Study-wide 139924 A=0.324891 G=0.675109
gnomAD - Genomes European Sub 75762 A=0.29137 G=0.70863
gnomAD - Genomes African Sub 41918 A=0.37974 G=0.62026
gnomAD - Genomes American Sub 13650 A=0.36571 G=0.63429
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.4250 G=0.5750
gnomAD - Genomes East Asian Sub 3124 A=0.1111 G=0.8889
gnomAD - Genomes Other Sub 2148 A=0.3333 G=0.6667
ExAC Global Study-wide 106234 A=0.286857 G=0.713143
ExAC Europe Sub 63060 A=0.30244 G=0.69756
ExAC Asian Sub 23974 A=0.20535 G=0.79465
ExAC American Sub 10562 A=0.31405 G=0.68595
ExAC African Sub 7896 A=0.3697 G=0.6303
ExAC Other Sub 742 A=0.327 G=0.673
8.3KJPN JAPANESE Study-wide 16736 A=0.17884 G=0.82116
GO Exome Sequencing Project Global Study-wide 12844 A=0.33043 G=0.66957
GO Exome Sequencing Project European American Sub 8500 A=0.3098 G=0.6902
GO Exome Sequencing Project African American Sub 4344 A=0.3709 G=0.6291
1000Genomes Global Study-wide 5008 A=0.2879 G=0.7121
1000Genomes African Sub 1322 A=0.3994 G=0.6006
1000Genomes East Asian Sub 1008 A=0.1121 G=0.8879
1000Genomes Europe Sub 1006 A=0.2833 G=0.7167
1000Genomes South Asian Sub 978 A=0.259 G=0.741
1000Genomes American Sub 694 A=0.379 G=0.621
Genetic variation in the Estonian population Estonian Study-wide 4478 A=0.2351 G=0.7649
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.2935 G=0.7065
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.2837 G=0.7163
KOREAN population from KRGDB KOREAN Study-wide 2914 A=0.1009 G=0.8991
Northern Sweden ACPOP Study-wide 600 A=0.282 G=0.718
SGDP_PRJ Global Study-wide 504 A=0.187 G=0.813
FINRISK Finnish from FINRISK project Study-wide 282 A=0.245 G=0.755
Qatari Global Study-wide 216 A=0.384 G=0.616
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.070 G=0.930
Siberian Global Study-wide 50 A=0.18 G=0.82
The Danish reference pan genome Danish Study-wide 40 A=0.28 G=0.72
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 A= G
GRCh38.p13 chr 1 NC_000001.11:g.20717668= NC_000001.11:g.20717668A>G
GRCh37.p13 chr 1 NC_000001.10:g.21044161= NC_000001.10:g.21044161A>G
KIF17 transcript variant 1 NM_020816.4:c.39= NM_020816.4:c.39T>C
KIF17 transcript variant 1 NM_020816.3:c.39= NM_020816.3:c.39T>C
KIF17 transcript variant 1 NM_020816.2:c.39= NM_020816.2:c.39T>C
KIF17 transcript variant 2 NM_001122819.3:c.39= NM_001122819.3:c.39T>C
KIF17 transcript variant 2 NM_001122819.2:c.39= NM_001122819.2:c.39T>C
KIF17 transcript variant 2 NM_001122819.1:c.39= NM_001122819.1:c.39T>C
KIF17 transcript variant 3 NM_001287212.2:c.-389= NM_001287212.2:c.-389T>C
KIF17 transcript variant 3 NM_001287212.1:c.-389= NM_001287212.1:c.-389T>C
kinesin-like protein KIF17 isoform a NP_065867.2:p.Arg13= NP_065867.2:p.Arg13=
kinesin-like protein KIF17 isoform b NP_001116291.1:p.Arg13= NP_001116291.1:p.Arg13=
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#.

84 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss773303 Aug 11, 2000 (83)
2 KWOK ss1081433 Oct 04, 2000 (86)
3 KWOK ss1082345 Oct 04, 2000 (86)
4 KWOK ss1908717 Oct 18, 2000 (87)
5 KWOK ss1909465 Oct 18, 2000 (87)
6 SSAHASNP ss20511202 Apr 05, 2004 (121)
7 ABI ss44044976 Mar 13, 2006 (126)
8 HUMANGENOME_JCVI ss97923897 Feb 06, 2009 (130)
9 BGI ss102725909 Dec 01, 2009 (131)
10 ENSEMBL ss143546341 Dec 01, 2009 (131)
11 GMI ss154739792 Dec 01, 2009 (131)
12 SEATTLESEQ ss159696551 Dec 01, 2009 (131)
13 COMPLETE_GENOMICS ss163941971 Jul 04, 2010 (132)
14 BCM-HGSC-SUB ss205234125 Jul 04, 2010 (132)
15 1000GENOMES ss217314506 Jul 14, 2010 (132)
16 1000GENOMES ss217390967 Jul 14, 2010 (132)
17 1000GENOMES ss217392222 Jul 14, 2010 (132)
18 1000GENOMES ss217400107 Jul 14, 2010 (132)
19 1000GENOMES ss217410638 Jul 14, 2010 (132)
20 1000GENOMES ss217411239 Jul 14, 2010 (132)
21 1000GENOMES ss218274095 Jul 14, 2010 (132)
22 1000GENOMES ss230455186 Jul 14, 2010 (132)
23 1000GENOMES ss238164762 Jul 15, 2010 (132)
24 GMI ss275745850 May 04, 2012 (137)
25 PJP ss290782300 May 09, 2011 (134)
26 1000GENOMES ss489726736 May 04, 2012 (137)
27 CLINSEQ_SNP ss491587995 May 04, 2012 (137)
28 SSMP ss647627740 Apr 25, 2013 (138)
29 NHLBI-ESP ss712281019 Apr 25, 2013 (138)
30 JMKIDD_LAB ss974433785 Aug 21, 2014 (142)
31 EVA-GONL ss974927266 Aug 21, 2014 (142)
32 JMKIDD_LAB ss1067417617 Aug 21, 2014 (142)
33 JMKIDD_LAB ss1067721774 Aug 21, 2014 (142)
34 1000GENOMES ss1289962039 Aug 21, 2014 (142)
35 DDI ss1425739265 Apr 01, 2015 (144)
36 EVA_GENOME_DK ss1573929628 Apr 01, 2015 (144)
37 EVA_FINRISK ss1584005590 Apr 01, 2015 (144)
38 EVA_DECODE ss1584285515 Apr 01, 2015 (144)
39 EVA_UK10K_ALSPAC ss1599688964 Apr 01, 2015 (144)
40 EVA_UK10K_TWINSUK ss1642682997 Apr 01, 2015 (144)
41 EVA_EXAC ss1685369159 Apr 01, 2015 (144)
42 HAMMER_LAB ss1794033817 Sep 08, 2015 (146)
43 WEILL_CORNELL_DGM ss1918139112 Feb 12, 2016 (147)
44 JJLAB ss2019581368 Sep 14, 2016 (149)
45 USC_VALOUEV ss2147585081 Dec 20, 2016 (150)
46 HUMAN_LONGEVITY ss2160574584 Dec 20, 2016 (150)
47 TOPMED ss2322756801 Dec 20, 2016 (150)
48 SYSTEMSBIOZJU ss2624307158 Nov 08, 2017 (151)
49 GRF ss2697489715 Nov 08, 2017 (151)
50 GNOMAD ss2731219733 Nov 08, 2017 (151)
51 GNOMAD ss2746248522 Nov 08, 2017 (151)
52 GNOMAD ss2752450860 Nov 08, 2017 (151)
53 SWEGEN ss2986434658 Nov 08, 2017 (151)
54 EVA_SAMSUNG_MC ss3023056462 Nov 08, 2017 (151)
55 BIOINF_KMB_FNS_UNIBA ss3023556026 Nov 08, 2017 (151)
56 TOPMED ss3070431883 Nov 08, 2017 (151)
57 CSHL ss3343358468 Nov 08, 2017 (151)
58 OMUKHERJEE_ADBS ss3646226241 Oct 11, 2018 (152)
59 URBANLAB ss3646617832 Oct 11, 2018 (152)
60 EGCUT_WGS ss3654505033 Jul 12, 2019 (153)
61 EVA_DECODE ss3686307447 Jul 12, 2019 (153)
62 ACPOP ss3726853128 Jul 12, 2019 (153)
63 EVA ss3745918241 Jul 12, 2019 (153)
64 PACBIO ss3783347251 Jul 12, 2019 (153)
65 PACBIO ss3789017806 Jul 12, 2019 (153)
66 PACBIO ss3793890285 Jul 12, 2019 (153)
67 KHV_HUMAN_GENOMES ss3798937929 Jul 12, 2019 (153)
68 EVA ss3823573271 Apr 25, 2020 (154)
69 EVA ss3825517818 Apr 25, 2020 (154)
70 EVA ss3825534970 Apr 25, 2020 (154)
71 EVA ss3825556560 Apr 25, 2020 (154)
72 EVA ss3826061197 Apr 25, 2020 (154)
73 EVA ss3836418778 Apr 25, 2020 (154)
74 EVA ss3841823239 Apr 25, 2020 (154)
75 SGDP_PRJ ss3848366522 Apr 25, 2020 (154)
76 KRGDB ss3893275606 Apr 25, 2020 (154)
77 FSA-LAB ss3983921316 Apr 27, 2021 (155)
78 FSA-LAB ss3983921317 Apr 27, 2021 (155)
79 EVA ss3986009522 Apr 27, 2021 (155)
80 EVA ss3986105381 Apr 27, 2021 (155)
81 TOPMED ss4441490707 Apr 27, 2021 (155)
82 TOMMO_GENOMICS ss5142838527 Apr 27, 2021 (155)
83 EVA ss5236865774 Apr 27, 2021 (155)
84 EVA ss5237160246 Apr 27, 2021 (155)
85 1000Genomes NC_000001.10 - 21044161 Oct 11, 2018 (152)
86 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 21044161 Oct 11, 2018 (152)
87 Genetic variation in the Estonian population NC_000001.10 - 21044161 Oct 11, 2018 (152)
88 ExAC NC_000001.10 - 21044161 Oct 11, 2018 (152)
89 FINRISK NC_000001.10 - 21044161 Apr 25, 2020 (154)
90 The Danish reference pan genome NC_000001.10 - 21044161 Apr 25, 2020 (154)
91 gnomAD - Genomes NC_000001.11 - 20717668 Apr 27, 2021 (155)
92 gnomAD - Exomes NC_000001.10 - 21044161 Jul 12, 2019 (153)
93 GO Exome Sequencing Project NC_000001.10 - 21044161 Oct 11, 2018 (152)
94 KOREAN population from KRGDB NC_000001.10 - 21044161 Apr 25, 2020 (154)
95 Northern Sweden NC_000001.10 - 21044161 Jul 12, 2019 (153)
96 Qatari NC_000001.10 - 21044161 Apr 25, 2020 (154)
97 SGDP_PRJ NC_000001.10 - 21044161 Apr 25, 2020 (154)
98 Siberian NC_000001.10 - 21044161 Apr 25, 2020 (154)
99 8.3KJPN NC_000001.10 - 21044161 Apr 27, 2021 (155)
100 TopMed NC_000001.11 - 20717668 Apr 27, 2021 (155)
101 UK 10K study - Twins NC_000001.10 - 21044161 Oct 11, 2018 (152)
102 A Vietnamese Genetic Variation Database NC_000001.10 - 21044161 Jul 12, 2019 (153)
103 ALFA NC_000001.11 - 20717668 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
ss163941971, ss205234125, ss217314506, ss217390967, ss217392222, ss217400107, ss217410638, ss217411239, ss275745850, ss290782300, ss491587995, ss1584285515 NC_000001.9:20916747:A:G NC_000001.11:20717667:A:G (self)
647430, 341566, 243281, 4552837, 2051, 1418664, 233293, 31983, 453000, 137993, 181042, 383502, 101435, 807834, 341566, 73294, ss218274095, ss230455186, ss238164762, ss489726736, ss647627740, ss712281019, ss974433785, ss974927266, ss1067417617, ss1067721774, ss1289962039, ss1425739265, ss1573929628, ss1584005590, ss1599688964, ss1642682997, ss1685369159, ss1794033817, ss1918139112, ss2019581368, ss2147585081, ss2322756801, ss2624307158, ss2697489715, ss2731219733, ss2746248522, ss2752450860, ss2986434658, ss3023056462, ss3343358468, ss3646226241, ss3654505033, ss3726853128, ss3745918241, ss3783347251, ss3789017806, ss3793890285, ss3823573271, ss3825517818, ss3825534970, ss3825556560, ss3826061197, ss3836418778, ss3848366522, ss3893275606, ss3983921316, ss3983921317, ss3986009522, ss3986105381, ss5142838527 NC_000001.10:21044160:A:G NC_000001.11:20717667:A:G (self)
4493021, 3203283, 5097042, 2369389022, ss2160574584, ss3023556026, ss3070431883, ss3646617832, ss3686307447, ss3798937929, ss3841823239, ss4441490707, ss5236865774, ss5237160246 NC_000001.11:20717667:A:G NC_000001.11:20717667:A:G (self)
ss20511202 NT_004610.16:1847410:A:G NC_000001.11:20717667:A:G (self)
ss773303, ss1081433, ss1082345, ss1908717, ss1909465, ss44044976, ss97923897, ss102725909, ss143546341, ss154739792, ss159696551 NT_004610.19:7724248:A:G NC_000001.11:20717667:A: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 rs601329

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