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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.

rs628265

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:20691992 (GRCh38.p14) 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=0.468390 (141052/301142, ALFA)
G=0.451532 (119516/264690, TOPMED)
G=0.458960 (64237/139962, GnomAD) (+ 21 more)
G=0.38054 (29946/78694, PAGE_STUDY)
G=0.29042 (8206/28256, 14KJPN)
G=0.28819 (4830/16760, 8.3KJPN)
G=0.3877 (2483/6404, 1000G_30x)
G=0.3876 (1941/5008, 1000G)
A=0.4859 (2177/4480, Estonian)
A=0.4741 (1827/3854, ALSPAC)
A=0.4612 (1710/3708, TWINSUK)
G=0.1915 (561/2930, KOREAN)
G=0.3848 (802/2084, HGDP_Stanford)
G=0.3462 (655/1892, HapMap)
G=0.1981 (363/1832, Korea1K)
A=0.462 (461/998, GoNL)
G=0.177 (136/770, PRJEB37584)
A=0.477 (286/600, NorthernSweden)
G=0.227 (111/488, SGDP_PRJ)
A=0.481 (104/216, Qatari)
G=0.245 (52/212, Vietnamese)
A=0.333 (36/108, Ancient Sardinia)
G=0.33 (16/48, Siberian)
G=0.45 (18/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
KIF17 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome

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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 306178 G=0.530590 A=0.469410
European Sub 269342 G=0.549821 A=0.450179
African Sub 9524 G=0.3103 A=0.6897
African Others Sub 372 G=0.242 A=0.758
African American Sub 9152 G=0.3130 A=0.6870
Asian Sub 3912 G=0.1938 A=0.8062
East Asian Sub 3168 G=0.1979 A=0.8021
Other Asian Sub 744 G=0.176 A=0.824
Latin American 1 Sub 1134 G=0.4903 A=0.5097
Latin American 2 Sub 7198 G=0.4435 A=0.5565
South Asian Sub 5220 G=0.4341 A=0.5659
Other Sub 9848 G=0.4710 A=0.5290


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
Allele Frequency Aggregator Total Global 301142 G=0.531610 A=0.468390
Allele Frequency Aggregator European Sub 266248 G=0.549935 A=0.450065
Allele Frequency Aggregator Other Sub 9048 G=0.4729 A=0.5271
Allele Frequency Aggregator African Sub 8382 G=0.3126 A=0.6874
Allele Frequency Aggregator Latin American 2 Sub 7198 G=0.4435 A=0.5565
Allele Frequency Aggregator South Asian Sub 5220 G=0.4341 A=0.5659
Allele Frequency Aggregator Asian Sub 3912 G=0.1938 A=0.8062
Allele Frequency Aggregator Latin American 1 Sub 1134 G=0.4903 A=0.5097
TopMed Global Study-wide 264690 G=0.451532 A=0.548468
gnomAD - Genomes Global Study-wide 139962 G=0.458960 A=0.541040
gnomAD - Genomes European Sub 75804 G=0.53268 A=0.46732
gnomAD - Genomes African Sub 41948 G=0.30793 A=0.69207
gnomAD - Genomes American Sub 13620 G=0.52739 A=0.47261
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=0.6431 A=0.3569
gnomAD - Genomes East Asian Sub 3120 G=0.2013 A=0.7987
gnomAD - Genomes Other Sub 2150 G=0.4628 A=0.5372
The PAGE Study Global Study-wide 78694 G=0.38054 A=0.61946
The PAGE Study AfricanAmerican Sub 32514 G=0.31433 A=0.68567
The PAGE Study Mexican Sub 10810 G=0.45486 A=0.54514
The PAGE Study Asian Sub 8316 G=0.2660 A=0.7340
The PAGE Study PuertoRican Sub 7918 G=0.4949 A=0.5051
The PAGE Study NativeHawaiian Sub 4534 G=0.3326 A=0.6674
The PAGE Study Cuban Sub 4228 G=0.5203 A=0.4797
The PAGE Study Dominican Sub 3828 G=0.4598 A=0.5402
The PAGE Study CentralAmerican Sub 2450 G=0.4820 A=0.5180
The PAGE Study SouthAmerican Sub 1980 G=0.5318 A=0.4682
The PAGE Study NativeAmerican Sub 1260 G=0.4873 A=0.5127
The PAGE Study SouthAsian Sub 856 G=0.423 A=0.577
14KJPN JAPANESE Study-wide 28256 G=0.29042 A=0.70958
8.3KJPN JAPANESE Study-wide 16760 G=0.28819 A=0.71181
1000Genomes_30x Global Study-wide 6404 G=0.3877 A=0.6123
1000Genomes_30x African Sub 1786 G=0.2704 A=0.7296
1000Genomes_30x Europe Sub 1266 G=0.5766 A=0.4234
1000Genomes_30x South Asian Sub 1202 G=0.4201 A=0.5799
1000Genomes_30x East Asian Sub 1170 G=0.2094 A=0.7906
1000Genomes_30x American Sub 980 G=0.531 A=0.469
1000Genomes Global Study-wide 5008 G=0.3876 A=0.6124
1000Genomes African Sub 1322 G=0.2685 A=0.7315
1000Genomes East Asian Sub 1008 G=0.2163 A=0.7837
1000Genomes Europe Sub 1006 G=0.5755 A=0.4245
1000Genomes South Asian Sub 978 G=0.422 A=0.578
1000Genomes American Sub 694 G=0.542 A=0.458
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.5141 A=0.4859
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.5259 A=0.4741
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.5388 A=0.4612
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.1915 A=0.8085
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.3848 A=0.6152
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.196 A=0.804
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.423 A=0.577
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.543 A=0.457
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.619 A=0.381
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.128 A=0.872
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.528 A=0.472
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.03 A=0.97
HapMap Global Study-wide 1892 G=0.3462 A=0.6538
HapMap American Sub 770 G=0.386 A=0.614
HapMap African Sub 692 G=0.264 A=0.736
HapMap Asian Sub 254 G=0.248 A=0.752
HapMap Europe Sub 176 G=0.636 A=0.364
Korean Genome Project KOREAN Study-wide 1832 G=0.1981 A=0.8019
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.538 A=0.462
CNV burdens in cranial meningiomas Global Study-wide 770 G=0.177 A=0.823
CNV burdens in cranial meningiomas CRM Sub 770 G=0.177 A=0.823
Northern Sweden ACPOP Study-wide 600 G=0.523 A=0.477
SGDP_PRJ Global Study-wide 488 G=0.227 A=0.773
Qatari Global Study-wide 216 G=0.519 A=0.481
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.245 A=0.755
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 108 G=0.667 A=0.333
Siberian Global Study-wide 48 G=0.33 A=0.67
The Danish reference pan genome Danish Study-wide 40 G=0.45 A=0.55
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.p14 chr 1 NC_000001.11:g.20691992G>A
GRCh37.p13 chr 1 NC_000001.10:g.21018485G>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.1234-165…

NM_001122819.3:c.1234-1657C>T

N/A Intron Variant
KIF17 transcript variant 3 NM_001287212.2:c.934-1657…

NM_001287212.2:c.934-1657C>T

N/A Intron Variant
KIF17 transcript variant 1 NM_020816.4:c.1234-1657C>T N/A Intron Variant
KIF17 transcript variant X1 XM_047426146.1:c.1234-165…

XM_047426146.1:c.1234-1657C>T

N/A Intron Variant
KIF17 transcript variant X2 XM_047426147.1:c.1234-165…

XM_047426147.1:c.1234-1657C>T

N/A Intron Variant
KIF17 transcript variant X3 XM_047426148.1:c.1234-165…

XM_047426148.1:c.1234-1657C>T

N/A Intron Variant
KIF17 transcript variant X5 XM_047426149.1:c.1234-165…

XM_047426149.1:c.1234-1657C>T

N/A Intron Variant
KIF17 transcript variant X6 XM_047426150.1:c.1234-165…

XM_047426150.1:c.1234-1657C>T

N/A Intron Variant
KIF17 transcript variant X7 XM_047426151.1:c.1234-165…

XM_047426151.1:c.1234-1657C>T

N/A Intron Variant
KIF17 transcript variant X8 XM_047426152.1:c.1234-165…

XM_047426152.1:c.1234-1657C>T

N/A Intron Variant
KIF17 transcript variant X9 XM_047426153.1:c.1234-165…

XM_047426153.1:c.1234-1657C>T

N/A Intron Variant
KIF17 transcript variant X10 XM_047426154.1:c.1234-165…

XM_047426154.1:c.1234-1657C>T

N/A Intron Variant
KIF17 transcript variant X11 XM_047426155.1:c.1234-165…

XM_047426155.1:c.1234-1657C>T

N/A Intron Variant
KIF17 transcript variant X12 XM_047426156.1:c.1234-165…

XM_047426156.1:c.1234-1657C>T

N/A Intron Variant
KIF17 transcript variant X13 XM_047426157.1:c.1234-165…

XM_047426157.1:c.1234-1657C>T

N/A Intron Variant
KIF17 transcript variant X14 XM_047426158.1:c.934-1657…

XM_047426158.1:c.934-1657C>T

N/A Intron Variant
KIF17 transcript variant X15 XM_047426159.1:c.1234-165…

XM_047426159.1:c.1234-1657C>T

N/A Intron Variant
KIF17 transcript variant X17 XM_047426161.1:c.1234-165…

XM_047426161.1:c.1234-1657C>T

N/A Intron Variant
KIF17 transcript variant X16 XM_047426160.1:c. N/A Genic Upstream Transcript Variant
KIF17 transcript variant X4 XR_007062426.1:n. 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
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.p14 chr 1 NC_000001.11:g.20691992= NC_000001.11:g.20691992G>A
GRCh37.p13 chr 1 NC_000001.10:g.21018485= NC_000001.10:g.21018485G>A
KIF17 transcript variant 2 NM_001122819.1:c.1234-1657= NM_001122819.1:c.1234-1657C>T
KIF17 transcript variant 2 NM_001122819.3:c.1234-1657= NM_001122819.3:c.1234-1657C>T
KIF17 transcript variant 3 NM_001287212.2:c.934-1657= NM_001287212.2:c.934-1657C>T
KIF17 transcript variant 1 NM_020816.2:c.1234-1657= NM_020816.2:c.1234-1657C>T
KIF17 transcript variant 1 NM_020816.4:c.1234-1657= NM_020816.4:c.1234-1657C>T
KIF17 transcript variant X1 XM_005245950.1:c.1234-1657= XM_005245950.1:c.1234-1657C>T
KIF17 transcript variant X2 XM_005245951.1:c.1234-1657= XM_005245951.1:c.1234-1657C>T
KIF17 transcript variant X1 XM_047426146.1:c.1234-1657= XM_047426146.1:c.1234-1657C>T
KIF17 transcript variant X2 XM_047426147.1:c.1234-1657= XM_047426147.1:c.1234-1657C>T
KIF17 transcript variant X3 XM_047426148.1:c.1234-1657= XM_047426148.1:c.1234-1657C>T
KIF17 transcript variant X5 XM_047426149.1:c.1234-1657= XM_047426149.1:c.1234-1657C>T
KIF17 transcript variant X6 XM_047426150.1:c.1234-1657= XM_047426150.1:c.1234-1657C>T
KIF17 transcript variant X7 XM_047426151.1:c.1234-1657= XM_047426151.1:c.1234-1657C>T
KIF17 transcript variant X8 XM_047426152.1:c.1234-1657= XM_047426152.1:c.1234-1657C>T
KIF17 transcript variant X9 XM_047426153.1:c.1234-1657= XM_047426153.1:c.1234-1657C>T
KIF17 transcript variant X10 XM_047426154.1:c.1234-1657= XM_047426154.1:c.1234-1657C>T
KIF17 transcript variant X11 XM_047426155.1:c.1234-1657= XM_047426155.1:c.1234-1657C>T
KIF17 transcript variant X12 XM_047426156.1:c.1234-1657= XM_047426156.1:c.1234-1657C>T
KIF17 transcript variant X13 XM_047426157.1:c.1234-1657= XM_047426157.1:c.1234-1657C>T
KIF17 transcript variant X14 XM_047426158.1:c.934-1657= XM_047426158.1:c.934-1657C>T
KIF17 transcript variant X15 XM_047426159.1:c.1234-1657= XM_047426159.1:c.1234-1657C>T
KIF17 transcript variant X17 XM_047426161.1:c.1234-1657= XM_047426161.1:c.1234-1657C>T
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#.

144 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss800779 Aug 11, 2000 (83)
2 SC_JCM ss2595126 Nov 09, 2000 (92)
3 WI_SSAHASNP ss6406525 Feb 20, 2003 (111)
4 BCM_SSAHASNP ss9865787 Jul 11, 2003 (116)
5 WUGSC_SSAHASNP ss14458627 Dec 05, 2003 (119)
6 CSHL-HAPMAP ss16418149 Feb 27, 2004 (120)
7 CSHL-HAPMAP ss19848796 Feb 27, 2004 (120)
8 SSAHASNP ss20564331 Apr 05, 2004 (121)
9 PERLEGEN ss24244716 Sep 20, 2004 (123)
10 ILLUMINA ss67449048 Nov 30, 2006 (127)
11 ILLUMINA ss67800465 Nov 30, 2006 (127)
12 ILLUMINA ss68249851 Dec 12, 2006 (127)
13 PERLEGEN ss68760847 May 17, 2007 (127)
14 ILLUMINA ss70861629 May 27, 2008 (130)
15 ILLUMINA ss71448998 May 17, 2007 (127)
16 ILLUMINA ss75506838 Dec 06, 2007 (129)
17 KRIBB_YJKIM ss83501809 Dec 16, 2007 (130)
18 BCMHGSC_JDW ss87283817 Mar 23, 2008 (129)
19 HUMANGENOME_JCVI ss97923845 Feb 06, 2009 (130)
20 BGI ss102725871 Dec 01, 2009 (131)
21 1000GENOMES ss110156181 Jan 24, 2009 (130)
22 ILLUMINA-UK ss118550229 Feb 14, 2009 (130)
23 ENSEMBL ss137834746 Dec 01, 2009 (131)
24 ENSEMBL ss139081852 Dec 01, 2009 (131)
25 ILLUMINA ss154356651 Dec 01, 2009 (131)
26 GMI ss154739297 Dec 01, 2009 (131)
27 ILLUMINA ss159532910 Dec 01, 2009 (131)
28 ILLUMINA ss160769853 Dec 01, 2009 (131)
29 COMPLETE_GENOMICS ss163157609 Jul 04, 2010 (132)
30 COMPLETE_GENOMICS ss163941395 Jul 04, 2010 (132)
31 COMPLETE_GENOMICS ss166209383 Jul 04, 2010 (132)
32 ILLUMINA ss173992207 Jul 04, 2010 (132)
33 BUSHMAN ss198136714 Jul 04, 2010 (132)
34 BCM-HGSC-SUB ss205391150 Jul 04, 2010 (132)
35 1000GENOMES ss218273952 Jul 14, 2010 (132)
36 1000GENOMES ss230455069 Jul 14, 2010 (132)
37 1000GENOMES ss238164668 Jul 15, 2010 (132)
38 GMI ss275745747 May 04, 2012 (137)
39 GMI ss284015083 Apr 25, 2013 (138)
40 PJP ss290782252 May 09, 2011 (134)
41 ILLUMINA ss481229439 May 04, 2012 (137)
42 ILLUMINA ss481253016 May 04, 2012 (137)
43 ILLUMINA ss482239367 Sep 08, 2015 (146)
44 ILLUMINA ss485410059 May 04, 2012 (137)
45 ILLUMINA ss537344372 Sep 08, 2015 (146)
46 TISHKOFF ss553871043 Apr 25, 2013 (138)
47 SSMP ss647627587 Apr 25, 2013 (138)
48 ILLUMINA ss778938480 Sep 08, 2015 (146)
49 ILLUMINA ss783150485 Sep 08, 2015 (146)
50 ILLUMINA ss784106461 Sep 08, 2015 (146)
51 ILLUMINA ss832409676 Sep 08, 2015 (146)
52 ILLUMINA ss833044149 Jul 12, 2019 (153)
53 ILLUMINA ss834400161 Sep 08, 2015 (146)
54 EVA-GONL ss974927010 Aug 21, 2014 (142)
55 JMKIDD_LAB ss1067721610 Aug 21, 2014 (142)
56 1000GENOMES ss1289961176 Aug 21, 2014 (142)
57 DDI ss1425739161 Apr 01, 2015 (144)
58 EVA_GENOME_DK ss1573929469 Apr 01, 2015 (144)
59 EVA_DECODE ss1584285255 Apr 01, 2015 (144)
60 EVA_UK10K_ALSPAC ss1599688502 Apr 01, 2015 (144)
61 EVA_UK10K_TWINSUK ss1642682535 Apr 01, 2015 (144)
62 EVA_SVP ss1712316620 Apr 01, 2015 (144)
63 ILLUMINA ss1751896005 Sep 08, 2015 (146)
64 HAMMER_LAB ss1794032674 Sep 08, 2015 (146)
65 WEILL_CORNELL_DGM ss1918138839 Feb 12, 2016 (147)
66 ILLUMINA ss1945987360 Feb 12, 2016 (147)
67 ILLUMINA ss1958250585 Feb 12, 2016 (147)
68 GENOMED ss1966701105 Jul 19, 2016 (147)
69 JJLAB ss2019581228 Sep 14, 2016 (149)
70 USC_VALOUEV ss2147584907 Dec 20, 2016 (150)
71 HUMAN_LONGEVITY ss2160572880 Dec 20, 2016 (150)
72 SYSTEMSBIOZJU ss2624307094 Nov 08, 2017 (151)
73 ILLUMINA ss2632487451 Nov 08, 2017 (151)
74 GRF ss2697489554 Nov 08, 2017 (151)
75 ILLUMINA ss2710667476 Nov 08, 2017 (151)
76 GNOMAD ss2752448510 Nov 08, 2017 (151)
77 SWEGEN ss2986434246 Nov 08, 2017 (151)
78 ILLUMINA ss3021064014 Nov 08, 2017 (151)
79 BIOINF_KMB_FNS_UNIBA ss3023555957 Nov 08, 2017 (151)
80 CSHL ss3343358317 Nov 08, 2017 (151)
81 ILLUMINA ss3625527959 Oct 11, 2018 (152)
82 ILLUMINA ss3626043899 Oct 11, 2018 (152)
83 ILLUMINA ss3630525234 Oct 11, 2018 (152)
84 ILLUMINA ss3632883645 Oct 11, 2018 (152)
85 ILLUMINA ss3633577669 Oct 11, 2018 (152)
86 ILLUMINA ss3634311453 Oct 11, 2018 (152)
87 ILLUMINA ss3635271717 Oct 11, 2018 (152)
88 ILLUMINA ss3635987668 Oct 11, 2018 (152)
89 ILLUMINA ss3637022099 Oct 11, 2018 (152)
90 ILLUMINA ss3637741860 Oct 11, 2018 (152)
91 ILLUMINA ss3638891906 Oct 11, 2018 (152)
92 ILLUMINA ss3639758621 Oct 11, 2018 (152)
93 ILLUMINA ss3640018817 Oct 11, 2018 (152)
94 ILLUMINA ss3640976187 Oct 11, 2018 (152)
95 ILLUMINA ss3641270057 Oct 11, 2018 (152)
96 ILLUMINA ss3642755284 Oct 11, 2018 (152)
97 ILLUMINA ss3643812467 Oct 11, 2018 (152)
98 ILLUMINA ss3644483218 Oct 11, 2018 (152)
99 URBANLAB ss3646617752 Oct 11, 2018 (152)
100 ILLUMINA ss3651388961 Oct 11, 2018 (152)
101 EGCUT_WGS ss3654504659 Jul 12, 2019 (153)
102 EVA_DECODE ss3686306830 Jul 12, 2019 (153)
103 ILLUMINA ss3725003875 Jul 12, 2019 (153)
104 ACPOP ss3726852900 Jul 12, 2019 (153)
105 ILLUMINA ss3744043052 Jul 12, 2019 (153)
106 ILLUMINA ss3744612413 Jul 12, 2019 (153)
107 EVA ss3745917939 Jul 12, 2019 (153)
108 PAGE_CC ss3770791579 Jul 12, 2019 (153)
109 ILLUMINA ss3772113979 Jul 12, 2019 (153)
110 PACBIO ss3783347181 Jul 12, 2019 (153)
111 PACBIO ss3789017744 Jul 12, 2019 (153)
112 PACBIO ss3793890219 Jul 12, 2019 (153)
113 KHV_HUMAN_GENOMES ss3798937638 Jul 12, 2019 (153)
114 EVA ss3826061036 Apr 25, 2020 (154)
115 EVA ss3836418717 Apr 25, 2020 (154)
116 EVA ss3841823174 Apr 25, 2020 (154)
117 HGDP ss3847326782 Apr 25, 2020 (154)
118 SGDP_PRJ ss3848365980 Apr 25, 2020 (154)
119 KRGDB ss3893275019 Apr 25, 2020 (154)
120 KOGIC ss3943991182 Apr 25, 2020 (154)
121 EVA ss3984453481 Apr 27, 2021 (155)
122 EVA ss3984783077 Apr 27, 2021 (155)
123 EVA ss4016897279 Apr 27, 2021 (155)
124 TOPMED ss4441484162 Apr 27, 2021 (155)
125 TOMMO_GENOMICS ss5142837386 Apr 27, 2021 (155)
126 1000G_HIGH_COVERAGE ss5241440727 Oct 19, 2022 (156)
127 EVA ss5314599194 Oct 19, 2022 (156)
128 EVA ss5317214374 Oct 19, 2022 (156)
129 HUGCELL_USP ss5442598375 Oct 19, 2022 (156)
130 EVA ss5505784094 Oct 19, 2022 (156)
131 1000G_HIGH_COVERAGE ss5513317278 Oct 19, 2022 (156)
132 SANFORD_IMAGENETICS ss5624198906 Oct 19, 2022 (156)
133 SANFORD_IMAGENETICS ss5625075051 Oct 19, 2022 (156)
134 TOMMO_GENOMICS ss5667245588 Oct 19, 2022 (156)
135 EVA ss5799477542 Oct 19, 2022 (156)
136 YY_MCH ss5800395391 Oct 19, 2022 (156)
137 EVA ss5831642093 Oct 19, 2022 (156)
138 EVA ss5847154361 Oct 19, 2022 (156)
139 EVA ss5847528977 Oct 19, 2022 (156)
140 EVA ss5848815320 Oct 19, 2022 (156)
141 EVA ss5907320444 Oct 19, 2022 (156)
142 EVA ss5936890938 Oct 19, 2022 (156)
143 EVA ss5979265989 Oct 19, 2022 (156)
144 EVA ss5979941344 Oct 19, 2022 (156)
145 1000Genomes NC_000001.10 - 21018485 Oct 11, 2018 (152)
146 1000Genomes_30x NC_000001.11 - 20691992 Oct 19, 2022 (156)
147 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 21018485 Oct 11, 2018 (152)
148 Genetic variation in the Estonian population NC_000001.10 - 21018485 Oct 11, 2018 (152)
149 The Danish reference pan genome NC_000001.10 - 21018485 Apr 25, 2020 (154)
150 gnomAD - Genomes NC_000001.11 - 20691992 Apr 27, 2021 (155)
151 Genome of the Netherlands Release 5 NC_000001.10 - 21018485 Apr 25, 2020 (154)
152 HGDP-CEPH-db Supplement 1 NC_000001.9 - 20891072 Apr 25, 2020 (154)
153 HapMap NC_000001.11 - 20691992 Apr 25, 2020 (154)
154 KOREAN population from KRGDB NC_000001.10 - 21018485 Apr 25, 2020 (154)
155 Korean Genome Project NC_000001.11 - 20691992 Apr 25, 2020 (154)
156 Northern Sweden NC_000001.10 - 21018485 Jul 12, 2019 (153)
157 The PAGE Study NC_000001.11 - 20691992 Jul 12, 2019 (153)
158 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 21018485 Apr 27, 2021 (155)
159 CNV burdens in cranial meningiomas NC_000001.10 - 21018485 Apr 27, 2021 (155)
160 Qatari NC_000001.10 - 21018485 Apr 25, 2020 (154)
161 SGDP_PRJ NC_000001.10 - 21018485 Apr 25, 2020 (154)
162 Siberian NC_000001.10 - 21018485 Apr 25, 2020 (154)
163 8.3KJPN NC_000001.10 - 21018485 Apr 27, 2021 (155)
164 14KJPN NC_000001.11 - 20691992 Oct 19, 2022 (156)
165 TopMed NC_000001.11 - 20691992 Apr 27, 2021 (155)
166 UK 10K study - Twins NC_000001.10 - 21018485 Oct 11, 2018 (152)
167 A Vietnamese Genetic Variation Database NC_000001.10 - 21018485 Jul 12, 2019 (153)
168 ALFA NC_000001.11 - 20691992 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)
rs1747875 Jan 18, 2001 (92)
rs17415789 Oct 07, 2004 (123)
rs61525555 May 27, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3638891906, ss3639758621, ss3643812467 NC_000001.8:20763790:G:A NC_000001.11:20691991:G:A (self)
4674, ss87283817, ss110156181, ss118550229, ss163157609, ss163941395, ss166209383, ss198136714, ss205391150, ss275745747, ss284015083, ss290782252, ss481229439, ss1584285255, ss1712316620, ss3642755284, ss3847326782 NC_000001.9:20891071:G:A NC_000001.11:20691991:G:A (self)
646527, 341057, 242907, 1418553, 148166, 452413, 137765, 9004, 2783, 180769, 382960, 101261, 806693, 341057, 73182, ss218273952, ss230455069, ss238164668, ss481253016, ss482239367, ss485410059, ss537344372, ss553871043, ss647627587, ss778938480, ss783150485, ss784106461, ss832409676, ss833044149, ss834400161, ss974927010, ss1067721610, ss1289961176, ss1425739161, ss1573929469, ss1599688502, ss1642682535, ss1751896005, ss1794032674, ss1918138839, ss1945987360, ss1958250585, ss1966701105, ss2019581228, ss2147584907, ss2624307094, ss2632487451, ss2697489554, ss2710667476, ss2752448510, ss2986434246, ss3021064014, ss3343358317, ss3625527959, ss3626043899, ss3630525234, ss3632883645, ss3633577669, ss3634311453, ss3635271717, ss3635987668, ss3637022099, ss3637741860, ss3640018817, ss3640976187, ss3641270057, ss3644483218, ss3651388961, ss3654504659, ss3726852900, ss3744043052, ss3744612413, ss3745917939, ss3772113979, ss3783347181, ss3789017744, ss3793890219, ss3826061036, ss3836418717, ss3848365980, ss3893275019, ss3984453481, ss3984783077, ss4016897279, ss5142837386, ss5314599194, ss5317214374, ss5505784094, ss5624198906, ss5625075051, ss5799477542, ss5831642093, ss5847154361, ss5847528977, ss5936890938, ss5979265989, ss5979941344 NC_000001.10:21018484:G:A NC_000001.11:20691991:G:A (self)
843213, 4486729, 26740, 369183, 13048, 1082692, 5090497, 3470448983, ss2160572880, ss3023555957, ss3646617752, ss3686306830, ss3725003875, ss3770791579, ss3798937638, ss3841823174, ss3943991182, ss4441484162, ss5241440727, ss5442598375, ss5513317278, ss5667245588, ss5800395391, ss5848815320, ss5907320444 NC_000001.11:20691991:G:A NC_000001.11:20691991:G:A (self)
ss9865787 NT_004610.15:1821734:G:A NC_000001.11:20691991:G:A (self)
ss14458627, ss16418149, ss19848796, ss20564331 NT_004610.16:1821734:G:A NC_000001.11:20691991:G:A (self)
ss800779, ss2595126, ss6406525, ss24244716, ss67449048, ss67800465, ss68249851, ss68760847, ss70861629, ss71448998, ss75506838, ss83501809, ss97923845, ss102725871, ss137834746, ss139081852, ss154356651, ss154739297, ss159532910, ss160769853, ss173992207 NT_004610.19:7698572:G:A NC_000001.11:20691991: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 rs628265

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.post761+d5e8e07