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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.

rs647812

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:20667724 (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
T>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.417594 (110533/264690, TOPMED)
C=0.420224 (58844/140030, GnomAD)
C=0.41054 (32307/78694, PAGE_STUDY) (+ 16 more)
C=0.37564 (15375/40930, ALFA)
C=0.31325 (5250/16760, 8.3KJPN)
C=0.3890 (1948/5008, 1000G)
C=0.3801 (1703/4480, Estonian)
C=0.3954 (1524/3854, ALSPAC)
C=0.4248 (1575/3708, TWINSUK)
C=0.3294 (965/2930, KOREAN)
C=0.424 (423/998, GoNL)
C=0.408 (245/600, NorthernSweden)
T=0.379 (122/322, SGDP_PRJ)
C=0.472 (102/216, Qatari)
C=0.313 (67/214, Vietnamese)
C=0.446 (91/204, HapMap)
T=0.50 (20/40, GENOME_DK)
C=0.50 (20/40, GENOME_DK)
T=0.33 (8/24, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
KIF17 : Intron 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.20667724T>A
GRCh38.p13 chr 1 NC_000001.11:g.20667724T>C
GRCh37.p13 chr 1 NC_000001.10:g.20994217T>A
GRCh37.p13 chr 1 NC_000001.10:g.20994217T>C
Gene: KIF17, kinesin family member 17 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
KIF17 transcript variant 2 NM_001122819.3:c.2791-139…

NM_001122819.3:c.2791-1393A>T

N/A Intron Variant
KIF17 transcript variant 3 NM_001287212.2:c.2494-139…

NM_001287212.2:c.2494-1393A>T

N/A Intron Variant
KIF17 transcript variant 1 NM_020816.4:c.2794-1393A>T N/A Intron 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 (New)
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 40930 T=0.62436 A=0.00000, C=0.37564
European Sub 28518 T=0.62199 A=0.00000, C=0.37801
African Sub 3798 T=0.6445 A=0.0000, C=0.3555
African Others Sub 124 T=0.710 A=0.000, C=0.290
African American Sub 3674 T=0.6424 A=0.0000, C=0.3576
Asian Sub 416 T=0.733 A=0.000, C=0.267
East Asian Sub 364 T=0.731 A=0.000, C=0.269
Other Asian Sub 52 T=0.75 A=0.00, C=0.25
Latin American 1 Sub 482 T=0.705 A=0.000, C=0.295
Latin American 2 Sub 4502 T=0.6095 A=0.0000, C=0.3905
South Asian Sub 126 T=0.762 A=0.000, C=0.238
Other Sub 3088 T=0.6101 A=0.0000, C=0.3899


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 T=0.582406 C=0.417594
gnomAD - Genomes Global Study-wide 140030 T=0.579776 C=0.420224
gnomAD - Genomes European Sub 75848 T=0.58582 C=0.41418
gnomAD - Genomes African Sub 41954 T=0.56309 C=0.43691
gnomAD - Genomes American Sub 13636 T=0.56945 C=0.43055
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.5677 C=0.4323
gnomAD - Genomes East Asian Sub 3124 T=0.7154 C=0.2846
gnomAD - Genomes Other Sub 2146 T=0.5792 C=0.4208
The PAGE Study Global Study-wide 78694 T=0.58946 C=0.41054
The PAGE Study AfricanAmerican Sub 32512 T=0.56352 C=0.43648
The PAGE Study Mexican Sub 10810 T=0.58057 C=0.41943
The PAGE Study Asian Sub 8316 T=0.7001 C=0.2999
The PAGE Study PuertoRican Sub 7918 T=0.5519 C=0.4481
The PAGE Study NativeHawaiian Sub 4534 T=0.7075 C=0.2925
The PAGE Study Cuban Sub 4228 T=0.5807 C=0.4193
The PAGE Study Dominican Sub 3828 T=0.5601 C=0.4399
The PAGE Study CentralAmerican Sub 2450 T=0.5318 C=0.4682
The PAGE Study SouthAmerican Sub 1982 T=0.5661 C=0.4339
The PAGE Study NativeAmerican Sub 1260 T=0.6040 C=0.3960
The PAGE Study SouthAsian Sub 856 T=0.707 C=0.293
8.3KJPN JAPANESE Study-wide 16760 T=0.68675 C=0.31325
1000Genomes Global Study-wide 5008 T=0.6110 C=0.3890
1000Genomes African Sub 1322 T=0.5439 C=0.4561
1000Genomes East Asian Sub 1008 T=0.6865 C=0.3135
1000Genomes Europe Sub 1006 T=0.5716 C=0.4284
1000Genomes South Asian Sub 978 T=0.715 C=0.285
1000Genomes American Sub 694 T=0.540 C=0.460
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.6199 C=0.3801
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.6046 C=0.3954
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.5752 C=0.4248
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.6706 C=0.3294
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.576 C=0.424
Northern Sweden ACPOP Study-wide 600 T=0.592 C=0.408
SGDP_PRJ Global Study-wide 322 T=0.379 C=0.621
Qatari Global Study-wide 216 T=0.528 C=0.472
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.687 C=0.313
HapMap Global Study-wide 204 T=0.554 C=0.446
HapMap African Sub 102 T=0.520 C=0.480
HapMap American Sub 102 T=0.588 C=0.412
The Danish reference pan genome Danish Study-wide 40 T=0.50 C=0.50
Siberian Global Study-wide 24 T=0.33 C=0.67
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 T= A C
GRCh38.p13 chr 1 NC_000001.11:g.20667724= NC_000001.11:g.20667724T>A NC_000001.11:g.20667724T>C
GRCh37.p13 chr 1 NC_000001.10:g.20994217= NC_000001.10:g.20994217T>A NC_000001.10:g.20994217T>C
KIF17 transcript variant 2 NM_001122819.1:c.2791-1393= NM_001122819.1:c.2791-1393A>T NM_001122819.1:c.2791-1393A>G
KIF17 transcript variant 2 NM_001122819.3:c.2791-1393= NM_001122819.3:c.2791-1393A>T NM_001122819.3:c.2791-1393A>G
KIF17 transcript variant 3 NM_001287212.2:c.2494-1393= NM_001287212.2:c.2494-1393A>T NM_001287212.2:c.2494-1393A>G
KIF17 transcript variant 1 NM_020816.2:c.2794-1393= NM_020816.2:c.2794-1393A>T NM_020816.2:c.2794-1393A>G
KIF17 transcript variant 1 NM_020816.4:c.2794-1393= NM_020816.4:c.2794-1393A>T NM_020816.4:c.2794-1393A>G
KIF17 transcript variant X1 XM_005245950.1:c.2794-1393= XM_005245950.1:c.2794-1393A>T XM_005245950.1:c.2794-1393A>G
KIF17 transcript variant X2 XM_005245951.1:c.2791-1393= XM_005245951.1:c.2791-1393A>T XM_005245951.1:c.2791-1393A>G
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#.

87 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss820713 Aug 11, 2000 (83)
2 KWOK ss1081379 Oct 04, 2000 (86)
3 KWOK ss1082118 Oct 04, 2000 (86)
4 KWOK ss1082322 Oct 04, 2000 (86)
5 KWOK ss1082668 Oct 04, 2000 (86)
6 KWOK ss1908663 Oct 18, 2000 (87)
7 KWOK ss1908816 Oct 18, 2000 (87)
8 KWOK ss1909175 Oct 18, 2000 (87)
9 KWOK ss1909424 Oct 18, 2000 (87)
10 KWOK ss1909588 Oct 18, 2000 (87)
11 KWOK ss1909641 Oct 18, 2000 (87)
12 TSC-CSHL ss3075624 Jun 15, 2001 (96)
13 TSC-CSHL ss5219188 Oct 08, 2002 (108)
14 CSHL-HAPMAP ss17336805 Feb 27, 2004 (120)
15 ABI ss41064505 Mar 15, 2006 (126)
16 HUMANGENOME_JCVI ss99192516 Feb 04, 2009 (130)
17 BGI ss102725861 Feb 20, 2009 (130)
18 1000GENOMES ss108047569 Jan 22, 2009 (130)
19 1000GENOMES ss110155927 Jan 24, 2009 (130)
20 ILLUMINA-UK ss118550152 Dec 01, 2009 (131)
21 ENSEMBL ss131741783 Dec 01, 2009 (131)
22 ILLUMINA ss152536387 Dec 01, 2009 (131)
23 GMI ss154739056 Dec 01, 2009 (131)
24 ILLUMINA ss159102631 Dec 01, 2009 (131)
25 ILLUMINA ss160778100 Dec 01, 2009 (131)
26 COMPLETE_GENOMICS ss163157307 Jul 04, 2010 (132)
27 COMPLETE_GENOMICS ss163941128 Jul 04, 2010 (132)
28 ILLUMINA ss168870888 Jul 04, 2010 (132)
29 BCM-HGSC-SUB ss205422784 Jul 04, 2010 (132)
30 1000GENOMES ss218273877 Jul 14, 2010 (132)
31 1000GENOMES ss230455006 Jul 14, 2010 (132)
32 1000GENOMES ss238164611 Jul 15, 2010 (132)
33 GMI ss275745683 May 04, 2012 (137)
34 GMI ss284015059 Apr 25, 2013 (138)
35 PJP ss290782217 May 09, 2011 (134)
36 ILLUMINA ss482264160 Sep 08, 2015 (146)
37 ILLUMINA ss532727817 Mar 15, 2016 (147)
38 TISHKOFF ss553870845 Apr 25, 2013 (138)
39 SSMP ss647627448 Apr 25, 2013 (138)
40 ILLUMINA ss832615427 Mar 15, 2016 (147)
41 ILLUMINA ss833206116 Mar 15, 2016 (147)
42 EVA-GONL ss974926821 Aug 21, 2014 (142)
43 JMKIDD_LAB ss1067721472 Aug 21, 2014 (142)
44 1000GENOMES ss1289960380 Aug 21, 2014 (142)
45 DDI ss1425739111 Apr 01, 2015 (144)
46 EVA_GENOME_DK ss1573929358 Apr 01, 2015 (144)
47 EVA_DECODE ss1584285067 Apr 01, 2015 (144)
48 EVA_UK10K_ALSPAC ss1599688096 Apr 01, 2015 (144)
49 EVA_UK10K_TWINSUK ss1642682129 Apr 01, 2015 (144)
50 HAMMER_LAB ss1794032417 Sep 08, 2015 (146)
51 WEILL_CORNELL_DGM ss1918138607 Feb 12, 2016 (147)
52 ILLUMINA ss1958250513 Feb 12, 2016 (147)
53 GENOMED ss1966701076 Jul 19, 2016 (147)
54 JJLAB ss2019581128 Sep 14, 2016 (149)
55 USC_VALOUEV ss2147584794 Dec 20, 2016 (150)
56 HUMAN_LONGEVITY ss2160571268 Dec 20, 2016 (150)
57 TOPMED ss2322753519 Dec 20, 2016 (150)
58 SYSTEMSBIOZJU ss2624307038 Nov 08, 2017 (151)
59 ILLUMINA ss2634996759 Nov 08, 2017 (151)
60 GRF ss2697489442 Nov 08, 2017 (151)
61 GNOMAD ss2752446254 Nov 08, 2017 (151)
62 AFFY ss2985501397 Nov 08, 2017 (151)
63 SWEGEN ss2986433925 Nov 08, 2017 (151)
64 ILLUMINA ss3021063949 Nov 08, 2017 (151)
65 BIOINF_KMB_FNS_UNIBA ss3023555909 Nov 08, 2017 (151)
66 TOPMED ss3070421559 Nov 08, 2017 (151)
67 CSHL ss3343358229 Nov 08, 2017 (151)
68 ILLUMINA ss3635987647 Oct 11, 2018 (152)
69 URBANLAB ss3646617705 Oct 11, 2018 (152)
70 ILLUMINA ss3651388895 Oct 11, 2018 (152)
71 EGCUT_WGS ss3654504343 Jul 12, 2019 (153)
72 EVA_DECODE ss3686306433 Jul 12, 2019 (153)
73 ILLUMINA ss3725003826 Jul 12, 2019 (153)
74 ACPOP ss3726852721 Jul 12, 2019 (153)
75 EVA ss3745917666 Jul 12, 2019 (153)
76 PAGE_CC ss3770791533 Jul 12, 2019 (153)
77 PACBIO ss3783347132 Jul 12, 2019 (153)
78 PACBIO ss3789017706 Jul 12, 2019 (153)
79 PACBIO ss3793890179 Jul 12, 2019 (153)
80 KHV_HUMAN_GENOMES ss3798937388 Jul 12, 2019 (153)
81 EVA ss3826060933 Apr 25, 2020 (154)
82 EVA ss3836418661 Apr 25, 2020 (154)
83 EVA ss3841823116 Apr 25, 2020 (154)
84 SGDP_PRJ ss3848365538 Apr 25, 2020 (154)
85 KRGDB ss3893274512 Apr 25, 2020 (154)
86 TOPMED ss4441478141 Apr 27, 2021 (155)
87 TOMMO_GENOMICS ss5142836482 Apr 27, 2021 (155)
88 1000Genomes NC_000001.10 - 20994217 Oct 11, 2018 (152)
89 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 20994217 Oct 11, 2018 (152)
90 Genetic variation in the Estonian population NC_000001.10 - 20994217 Oct 11, 2018 (152)
91 The Danish reference pan genome NC_000001.10 - 20994217 Apr 25, 2020 (154)
92 gnomAD - Genomes NC_000001.11 - 20667724 Apr 27, 2021 (155)
93 Genome of the Netherlands Release 5 NC_000001.10 - 20994217 Apr 25, 2020 (154)
94 HapMap NC_000001.11 - 20667724 Apr 25, 2020 (154)
95 KOREAN population from KRGDB NC_000001.10 - 20994217 Apr 25, 2020 (154)
96 Northern Sweden NC_000001.10 - 20994217 Jul 12, 2019 (153)
97 The PAGE Study NC_000001.11 - 20667724 Jul 12, 2019 (153)
98 Qatari NC_000001.10 - 20994217 Apr 25, 2020 (154)
99 SGDP_PRJ NC_000001.10 - 20994217 Apr 25, 2020 (154)
100 Siberian NC_000001.10 - 20994217 Apr 25, 2020 (154)
101 8.3KJPN NC_000001.10 - 20994217 Apr 27, 2021 (155)
102 TopMed NC_000001.11 - 20667724 Apr 27, 2021 (155)
103 UK 10K study - Twins NC_000001.10 - 20994217 Oct 11, 2018 (152)
104 A Vietnamese Genetic Variation Database NC_000001.10 - 20994217 Jul 12, 2019 (153)
105 ALFA NC_000001.11 - 20667724 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)
rs386419940 Jul 01, 2015 (144)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
10421500985 NC_000001.11:20667723:T:A NC_000001.11:20667723:T:A
ss108047569, ss110155927, ss118550152, ss160778100, ss163157307, ss163941128, ss205422784, ss275745683, ss284015059, ss290782217, ss1584285067, ss2634996759 NC_000001.9:20866803:T:C NC_000001.11:20667723:T:C (self)
645700, 340610, 242591, 1418477, 147987, 451906, 137586, 180537, 382518, 101148, 805789, 340610, 73089, ss218273877, ss230455006, ss238164611, ss482264160, ss553870845, ss647627448, ss974926821, ss1067721472, ss1289960380, ss1425739111, ss1573929358, ss1599688096, ss1642682129, ss1794032417, ss1918138607, ss1958250513, ss1966701076, ss2019581128, ss2147584794, ss2322753519, ss2624307038, ss2697489442, ss2752446254, ss2985501397, ss2986433925, ss3021063949, ss3343358229, ss3635987647, ss3651388895, ss3654504343, ss3726852721, ss3745917666, ss3783347132, ss3789017706, ss3793890179, ss3826060933, ss3836418661, ss3848365538, ss3893274512, ss5142836482 NC_000001.10:20994216:T:C NC_000001.11:20667723:T:C (self)
4481535, 26696, 13002, 3195186, 5084476, 10421500985, ss2160571268, ss3023555909, ss3070421559, ss3646617705, ss3686306433, ss3725003826, ss3770791533, ss3798937388, ss3841823116, ss4441478141 NC_000001.11:20667723:T:C NC_000001.11:20667723:T:C (self)
ss17336805 NT_004610.16:1797466:T:C NC_000001.11:20667723:T:C (self)
ss820713, ss1081379, ss1082118, ss1082322, ss1082668, ss1908663, ss1908816, ss1909175, ss1909424, ss1909588, ss1909641, ss3075624, ss5219188, ss41064505, ss99192516, ss102725861, ss131741783, ss152536387, ss154739056, ss159102631, ss168870888, ss532727817, ss832615427, ss833206116 NT_004610.19:7674304:T:C NC_000001.11:20667723:T:C (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 rs647812

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