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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.

rs12028811

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:20684853 (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
G=0.170176 (45044/264690, TOPMED)
G=0.122619 (27009/220268, GnomAD_exome)
G=0.155633 (21802/140086, GnomAD) (+ 15 more)
G=0.18596 (9686/52086, ExAC)
G=0.10892 (5384/49432, ALFA)
G=0.26217 (4394/16760, 8.3KJPN)
G=0.15012 (1948/12976, GO-ESP)
G=0.2254 (1129/5008, 1000G)
G=0.0752 (337/4480, Estonian)
G=0.3023 (885/2928, KOREAN)
G=0.2959 (542/1832, Korea1K)
G=0.079 (79/998, GoNL)
G=0.060 (36/600, NorthernSweden)
G=0.032 (17/534, MGP)
G=0.111 (24/216, Qatari)
A=0.402 (86/214, SGDP_PRJ)
G=0.15 (6/40, GENOME_DK)
A=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.20684853A>G
GRCh37.p13 chr 1 NC_000001.10:g.21011346A>G
Gene: KIF17, kinesin family member 17 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
KIF17 transcript variant 2 NM_001122819.3:c.2187T>C T [ACT] > T [ACC] Coding Sequence Variant
kinesin-like protein KIF17 isoform b NP_001116291.1:p.Thr729= T (Thr) > T (Thr) Synonymous Variant
KIF17 transcript variant 3 NM_001287212.2:c.1887T>C T [ACT] > T [ACC] Coding Sequence Variant
kinesin-like protein KIF17 isoform c NP_001274141.1:p.Thr629= T (Thr) > T (Thr) Synonymous Variant
KIF17 transcript variant 1 NM_020816.4:c.2187T>C T [ACT] > T [ACC] Coding Sequence Variant
kinesin-like protein KIF17 isoform a NP_065867.2:p.Thr729= T (Thr) > T (Thr) 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 49432 A=0.89108 G=0.10892
European Sub 37320 A=0.91018 G=0.08982
African Sub 3568 A=0.7259 G=0.2741
African Others Sub 122 A=0.672 G=0.328
African American Sub 3446 A=0.7278 G=0.2722
Asian Sub 200 A=0.650 G=0.350
East Asian Sub 144 A=0.694 G=0.306
Other Asian Sub 56 A=0.54 G=0.46
Latin American 1 Sub 500 A=0.804 G=0.196
Latin American 2 Sub 628 A=0.868 G=0.132
South Asian Sub 104 A=0.846 G=0.154
Other Sub 7112 A=0.8893 G=0.1107


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=0.829824 G=0.170176
gnomAD - Exomes Global Study-wide 220268 A=0.877381 G=0.122619
gnomAD - Exomes European Sub 117540 A=0.923507 G=0.076493
gnomAD - Exomes Asian Sub 43246 A=0.77649 G=0.22351
gnomAD - Exomes American Sub 31570 A=0.88489 G=0.11511
gnomAD - Exomes African Sub 13046 A=0.73708 G=0.26292
gnomAD - Exomes Ashkenazi Jewish Sub 9352 A=0.9246 G=0.0754
gnomAD - Exomes Other Sub 5514 A=0.8943 G=0.1057
gnomAD - Genomes Global Study-wide 140086 A=0.844367 G=0.155633
gnomAD - Genomes European Sub 75924 A=0.91568 G=0.08432
gnomAD - Genomes African Sub 41918 A=0.72038 G=0.27962
gnomAD - Genomes American Sub 13648 A=0.86101 G=0.13899
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.9236 G=0.0764
gnomAD - Genomes East Asian Sub 3120 A=0.6276 G=0.3724
gnomAD - Genomes Other Sub 2152 A=0.8299 G=0.1701
ExAC Global Study-wide 52086 A=0.81404 G=0.18596
ExAC Europe Sub 27784 A=0.87219 G=0.12781
ExAC Asian Sub 14670 A=0.75385 G=0.24615
ExAC African Sub 5520 A=0.6813 G=0.3187
ExAC American Sub 3726 A=0.8119 G=0.1881
ExAC Other Sub 386 A=0.834 G=0.166
Allele Frequency Aggregator Total Global 49432 A=0.89108 G=0.10892
Allele Frequency Aggregator European Sub 37320 A=0.91018 G=0.08982
Allele Frequency Aggregator Other Sub 7112 A=0.8893 G=0.1107
Allele Frequency Aggregator African Sub 3568 A=0.7259 G=0.2741
Allele Frequency Aggregator Latin American 2 Sub 628 A=0.868 G=0.132
Allele Frequency Aggregator Latin American 1 Sub 500 A=0.804 G=0.196
Allele Frequency Aggregator Asian Sub 200 A=0.650 G=0.350
Allele Frequency Aggregator South Asian Sub 104 A=0.846 G=0.154
8.3KJPN JAPANESE Study-wide 16760 A=0.73783 G=0.26217
GO Exome Sequencing Project Global Study-wide 12976 A=0.84988 G=0.15012
GO Exome Sequencing Project European American Sub 8582 A=0.9120 G=0.0880
GO Exome Sequencing Project African American Sub 4394 A=0.7285 G=0.2715
1000Genomes Global Study-wide 5008 A=0.7746 G=0.2254
1000Genomes African Sub 1322 A=0.6884 G=0.3116
1000Genomes East Asian Sub 1008 A=0.6647 G=0.3353
1000Genomes Europe Sub 1006 A=0.9145 G=0.0855
1000Genomes South Asian Sub 978 A=0.804 G=0.196
1000Genomes American Sub 694 A=0.854 G=0.146
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.9248 G=0.0752
KOREAN population from KRGDB KOREAN Study-wide 2928 A=0.6977 G=0.3023
Korean Genome Project KOREAN Study-wide 1832 A=0.7041 G=0.2959
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.921 G=0.079
Northern Sweden ACPOP Study-wide 600 A=0.940 G=0.060
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.968 G=0.032
Qatari Global Study-wide 216 A=0.889 G=0.111
SGDP_PRJ Global Study-wide 214 A=0.402 G=0.598
The Danish reference pan genome Danish Study-wide 40 A=0.85 G=0.15
Siberian Global Study-wide 18 A=0.44 G=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 A= G
GRCh38.p13 chr 1 NC_000001.11:g.20684853= NC_000001.11:g.20684853A>G
GRCh37.p13 chr 1 NC_000001.10:g.21011346= NC_000001.10:g.21011346A>G
KIF17 transcript variant 1 NM_020816.4:c.2187= NM_020816.4:c.2187T>C
KIF17 transcript variant 1 NM_020816.3:c.2187= NM_020816.3:c.2187T>C
KIF17 transcript variant 1 NM_020816.2:c.2187= NM_020816.2:c.2187T>C
KIF17 transcript variant 2 NM_001122819.3:c.2187= NM_001122819.3:c.2187T>C
KIF17 transcript variant 2 NM_001122819.2:c.2187= NM_001122819.2:c.2187T>C
KIF17 transcript variant 2 NM_001122819.1:c.2187= NM_001122819.1:c.2187T>C
KIF17 transcript variant 3 NM_001287212.2:c.1887= NM_001287212.2:c.1887T>C
KIF17 transcript variant 3 NM_001287212.1:c.1887= NM_001287212.1:c.1887T>C
kinesin-like protein KIF17 isoform a NP_065867.2:p.Thr729= NP_065867.2:p.Thr729=
kinesin-like protein KIF17 isoform b NP_001116291.1:p.Thr729= NP_001116291.1:p.Thr729=
kinesin-like protein KIF17 isoform c NP_001274141.1:p.Thr629= NP_001274141.1:p.Thr629=
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#.

75 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss18083531 Feb 28, 2004 (120)
2 PERLEGEN ss23159312 Sep 20, 2004 (123)
3 APPLERA_GI ss48429795 Mar 14, 2006 (126)
4 BGI ss105129443 Dec 01, 2009 (131)
5 1000GENOMES ss110156107 Jan 24, 2009 (130)
6 ILLUMINA-UK ss118550199 Feb 14, 2009 (130)
7 GMI ss154739214 Dec 01, 2009 (131)
8 SEATTLESEQ ss159696541 Dec 01, 2009 (131)
9 COMPLETE_GENOMICS ss163157523 Jul 04, 2010 (132)
10 BUSHMAN ss198136589 Jul 04, 2010 (132)
11 1000GENOMES ss217314469 Jul 14, 2010 (132)
12 1000GENOMES ss217390943 Jul 14, 2010 (132)
13 1000GENOMES ss217392192 Jul 14, 2010 (132)
14 1000GENOMES ss217400077 Jul 14, 2010 (132)
15 1000GENOMES ss217406012 Jul 14, 2010 (132)
16 1000GENOMES ss217410608 Jul 14, 2010 (132)
17 1000GENOMES ss217411142 Jul 14, 2010 (132)
18 1000GENOMES ss218273931 Jul 14, 2010 (132)
19 1000GENOMES ss230455047 Jul 14, 2010 (132)
20 1000GENOMES ss238164652 Jul 15, 2010 (132)
21 GMI ss275745716 May 04, 2012 (137)
22 PJP ss290782243 May 09, 2011 (134)
23 NHLBI-ESP ss341941835 May 09, 2011 (134)
24 1000GENOMES ss489726633 May 04, 2012 (137)
25 CLINSEQ_SNP ss491587965 May 04, 2012 (137)
26 TISHKOFF ss553870951 Apr 25, 2013 (138)
27 SSMP ss647627545 Apr 25, 2013 (138)
28 JMKIDD_LAB ss974433771 Aug 21, 2014 (142)
29 EVA-GONL ss974926938 Aug 21, 2014 (142)
30 JMKIDD_LAB ss1067417587 Aug 21, 2014 (142)
31 1000GENOMES ss1289960905 Aug 21, 2014 (142)
32 EVA_GENOME_DK ss1573929401 Apr 01, 2015 (144)
33 EVA_DECODE ss1584285191 Apr 01, 2015 (144)
34 EVA_EXAC ss1685368458 Apr 01, 2015 (144)
35 EVA_MGP ss1710893854 Apr 01, 2015 (144)
36 HAMMER_LAB ss1794032585 Sep 08, 2015 (146)
37 WEILL_CORNELL_DGM ss1918138757 Feb 12, 2016 (147)
38 ILLUMINA ss1958250550 Feb 12, 2016 (147)
39 JJLAB ss2019581193 Sep 14, 2016 (149)
40 USC_VALOUEV ss2147584870 Dec 20, 2016 (150)
41 HUMAN_LONGEVITY ss2160572321 Dec 20, 2016 (150)
42 TOPMED ss2322754591 Dec 20, 2016 (150)
43 SYSTEMSBIOZJU ss2624307073 Nov 08, 2017 (151)
44 GRF ss2697489517 Nov 08, 2017 (151)
45 GNOMAD ss2731218736 Nov 08, 2017 (151)
46 GNOMAD ss2746248218 Nov 08, 2017 (151)
47 GNOMAD ss2752447821 Nov 08, 2017 (151)
48 AFFY ss2984848611 Nov 08, 2017 (151)
49 SWEGEN ss2986434131 Nov 08, 2017 (151)
50 ILLUMINA ss3021063984 Nov 08, 2017 (151)
51 BIOINF_KMB_FNS_UNIBA ss3023555946 Nov 08, 2017 (151)
52 TOPMED ss3070424837 Nov 08, 2017 (151)
53 CSHL ss3343358286 Nov 08, 2017 (151)
54 OMUKHERJEE_ADBS ss3646226215 Oct 11, 2018 (152)
55 ILLUMINA ss3651388931 Oct 11, 2018 (152)
56 EGCUT_WGS ss3654504546 Jul 12, 2019 (153)
57 EVA_DECODE ss3686306711 Jul 12, 2019 (153)
58 ACPOP ss3726852833 Jul 12, 2019 (153)
59 EVA ss3745917837 Jul 12, 2019 (153)
60 KHV_HUMAN_GENOMES ss3798937548 Jul 12, 2019 (153)
61 EVA ss3823573109 Apr 25, 2020 (154)
62 EVA ss3825556511 Apr 25, 2020 (154)
63 EVA ss3826061001 Apr 25, 2020 (154)
64 EVA ss3836418698 Apr 25, 2020 (154)
65 EVA ss3841823156 Apr 25, 2020 (154)
66 SGDP_PRJ ss3848365821 Apr 25, 2020 (154)
67 KRGDB ss3893274879 Apr 25, 2020 (154)
68 KOGIC ss3943991028 Apr 25, 2020 (154)
69 FSA-LAB ss3983921262 Apr 27, 2021 (155)
70 FSA-LAB ss3983921263 Apr 27, 2021 (155)
71 EVA ss3986009515 Apr 27, 2021 (155)
72 EVA ss3986105292 Apr 27, 2021 (155)
73 TOPMED ss4441482264 Apr 27, 2021 (155)
74 TOMMO_GENOMICS ss5142837133 Apr 27, 2021 (155)
75 EVA ss5236865754 Apr 27, 2021 (155)
76 1000Genomes NC_000001.10 - 21011346 Oct 11, 2018 (152)
77 Genetic variation in the Estonian population NC_000001.10 - 21011346 Oct 11, 2018 (152)
78 ExAC NC_000001.10 - 21011346 Oct 11, 2018 (152)
79 The Danish reference pan genome NC_000001.10 - 21011346 Apr 25, 2020 (154)
80 gnomAD - Genomes NC_000001.11 - 20684853 Apr 27, 2021 (155)
81 gnomAD - Exomes NC_000001.10 - 21011346 Jul 12, 2019 (153)
82 GO Exome Sequencing Project NC_000001.10 - 21011346 Oct 11, 2018 (152)
83 Genome of the Netherlands Release 5 NC_000001.10 - 21011346 Apr 25, 2020 (154)
84 KOREAN population from KRGDB NC_000001.10 - 21011346 Apr 25, 2020 (154)
85 Korean Genome Project NC_000001.11 - 20684853 Apr 25, 2020 (154)
86 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 21011346 Apr 25, 2020 (154)
87 Northern Sweden NC_000001.10 - 21011346 Jul 12, 2019 (153)
88 Qatari NC_000001.10 - 21011346 Apr 25, 2020 (154)
89 SGDP_PRJ NC_000001.10 - 21011346 Apr 25, 2020 (154)
90 Siberian NC_000001.10 - 21011346 Apr 25, 2020 (154)
91 8.3KJPN NC_000001.10 - 21011346 Apr 27, 2021 (155)
92 TopMed NC_000001.11 - 20684853 Apr 27, 2021 (155)
93 ALFA NC_000001.11 - 20684853 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
ss110156107, ss118550199, ss163157523, ss198136589, ss217314469, ss217390943, ss217392192, ss217400077, ss217406012, ss217410608, ss217411142, ss275745716, ss290782243, ss491587965, ss1584285191 NC_000001.9:20883932:A:G NC_000001.11:20684852:A:G (self)
646247, 242794, 4552097, 1418520, 232279, 31821, 148099, 452273, 10606, 137698, 180687, 382801, 101224, 806440, ss218273931, ss230455047, ss238164652, ss341941835, ss489726633, ss553870951, ss647627545, ss974433771, ss974926938, ss1067417587, ss1289960905, ss1573929401, ss1685368458, ss1710893854, ss1794032585, ss1918138757, ss1958250550, ss2019581193, ss2147584870, ss2322754591, ss2624307073, ss2697489517, ss2731218736, ss2746248218, ss2752447821, ss2984848611, ss2986434131, ss3021063984, ss3343358286, ss3646226215, ss3651388931, ss3654504546, ss3726852833, ss3745917837, ss3823573109, ss3825556511, ss3826061001, ss3836418698, ss3848365821, ss3893274879, ss3983921262, ss3983921263, ss3986009515, ss3986105292, ss5142837133 NC_000001.10:21011345:A:G NC_000001.11:20684852:A:G (self)
4485163, 369029, 3197845, 5088599, 2075308695, ss2160572321, ss3023555946, ss3070424837, ss3686306711, ss3798937548, ss3841823156, ss3943991028, ss4441482264, ss5236865754 NC_000001.11:20684852:A:G NC_000001.11:20684852:A:G (self)
ss18083531 NT_004610.16:1814595:A:G NC_000001.11:20684852:A:G (self)
ss23159312, ss48429795, ss105129443, ss154739214, ss159696541 NT_004610.19:7691433:A:G NC_000001.11:20684852: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 rs12028811

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