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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.

rs17465637

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:222650187 (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
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.305247 (90739/297264, ALFA)
A=0.458944 (121478/264690, TOPMED)
A=0.433782 (60733/140008, GnomAD) (+ 23 more)
C=0.43319 (34093/78702, PAGE_STUDY)
A=0.46068 (13017/28256, 14KJPN)
A=0.34567 (7779/22504, ExAC)
A=0.45829 (7681/16760, 8.3KJPN)
C=0.4947 (3168/6404, 1000G_30x)
A=0.4962 (2485/5008, 1000G)
A=0.2685 (1203/4480, Estonian)
A=0.2709 (1044/3854, ALSPAC)
A=0.2807 (1041/3708, TWINSUK)
A=0.4502 (1319/2930, KOREAN)
C=0.4820 (911/1890, HapMap)
A=0.4694 (860/1832, Korea1K)
A=0.2952 (333/1128, Daghestan)
A=0.242 (242/998, GoNL)
A=0.391 (309/790, PRJEB37584)
A=0.233 (140/600, NorthernSweden)
A=0.301 (161/534, MGP)
A=0.273 (120/440, SGDP_PRJ)
A=0.440 (95/216, Qatari)
A=0.421 (91/216, Vietnamese)
A=0.34 (15/44, Siberian)
A=0.48 (20/42, Ancient Sardinia)
A=0.47 (19/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
MIA3 : Intron Variant
Publications
65 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 297480 A=0.305200 C=0.694800, T=0.000000
European Sub 254742 A=0.278309 C=0.721691, T=0.000000
African Sub 9948 A=0.7338 C=0.2662, T=0.0000
African Others Sub 346 A=0.812 C=0.188, T=0.000
African American Sub 9602 A=0.7310 C=0.2690, T=0.0000
Asian Sub 6890 A=0.3900 C=0.6100, T=0.0000
East Asian Sub 4936 A=0.4050 C=0.5950, T=0.0000
Other Asian Sub 1954 A=0.3521 C=0.6479, T=0.0000
Latin American 1 Sub 1028 A=0.4377 C=0.5623, T=0.0000
Latin American 2 Sub 6586 A=0.5161 C=0.4839, T=0.0000
South Asian Sub 368 A=0.359 C=0.641, T=0.000
Other Sub 17918 A=0.33073 C=0.66927, T=0.00000


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 297264 A=0.305247 C=0.694753, T=0.000000
Allele Frequency Aggregator European Sub 254562 A=0.278333 C=0.721667, T=0.000000
Allele Frequency Aggregator Other Sub 17896 A=0.33102 C=0.66898, T=0.00000
Allele Frequency Aggregator African Sub 9934 A=0.7342 C=0.2658, T=0.0000
Allele Frequency Aggregator Asian Sub 6890 A=0.3900 C=0.6100, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 6586 A=0.5161 C=0.4839, T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 1028 A=0.4377 C=0.5623, T=0.0000
Allele Frequency Aggregator South Asian Sub 368 A=0.359 C=0.641, T=0.000
TopMed Global Study-wide 264690 A=0.458944 C=0.541056
gnomAD - Genomes Global Study-wide 140008 A=0.433782 C=0.566218
gnomAD - Genomes European Sub 75864 A=0.27272 C=0.72728
gnomAD - Genomes African Sub 41924 A=0.74005 C=0.25995
gnomAD - Genomes American Sub 13636 A=0.43855 C=0.56145
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.2830 C=0.7170
gnomAD - Genomes East Asian Sub 3118 A=0.3842 C=0.6158
gnomAD - Genomes Other Sub 2144 A=0.4193 C=0.5807
The PAGE Study Global Study-wide 78702 A=0.56681 C=0.43319
The PAGE Study AfricanAmerican Sub 32516 A=0.72324 C=0.27676
The PAGE Study Mexican Sub 10810 A=0.48788 C=0.51212
The PAGE Study Asian Sub 8318 A=0.4482 C=0.5518
The PAGE Study PuertoRican Sub 7918 A=0.4923 C=0.5077
The PAGE Study NativeHawaiian Sub 4534 A=0.2821 C=0.7179
The PAGE Study Cuban Sub 4230 A=0.3865 C=0.6135
The PAGE Study Dominican Sub 3828 A=0.5387 C=0.4613
The PAGE Study CentralAmerican Sub 2450 A=0.5580 C=0.4420
The PAGE Study SouthAmerican Sub 1982 A=0.5010 C=0.4990
The PAGE Study NativeAmerican Sub 1260 A=0.4119 C=0.5881
The PAGE Study SouthAsian Sub 856 A=0.394 C=0.606
14KJPN JAPANESE Study-wide 28256 A=0.46068 C=0.53932
ExAC Global Study-wide 22504 A=0.34567 C=0.65433
ExAC Europe Sub 11396 A=0.26843 C=0.73157
ExAC Asian Sub 8620 A=0.3703 C=0.6297
ExAC African Sub 1732 A=0.7275 C=0.2725
ExAC American Sub 486 A=0.405 C=0.595
ExAC Other Sub 270 A=0.263 C=0.737
8.3KJPN JAPANESE Study-wide 16760 A=0.45829 C=0.54171
1000Genomes_30x Global Study-wide 6404 A=0.5053 C=0.4947
1000Genomes_30x African Sub 1786 A=0.8102 C=0.1898
1000Genomes_30x Europe Sub 1266 A=0.2599 C=0.7401
1000Genomes_30x South Asian Sub 1202 A=0.4201 C=0.5799
1000Genomes_30x East Asian Sub 1170 A=0.3966 C=0.6034
1000Genomes_30x American Sub 980 A=0.501 C=0.499
1000Genomes Global Study-wide 5008 A=0.4962 C=0.5038
1000Genomes African Sub 1322 A=0.8132 C=0.1868
1000Genomes East Asian Sub 1008 A=0.3948 C=0.6052
1000Genomes Europe Sub 1006 A=0.2624 C=0.7376
1000Genomes South Asian Sub 978 A=0.420 C=0.580
1000Genomes American Sub 694 A=0.486 C=0.514
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.2685 C=0.7315
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.2709 C=0.7291
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.2807 C=0.7193
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.4502 C=0.5498
HapMap Global Study-wide 1890 A=0.5180 C=0.4820
HapMap American Sub 768 A=0.366 C=0.634
HapMap African Sub 692 A=0.814 C=0.186
HapMap Asian Sub 254 A=0.378 C=0.622
HapMap Europe Sub 176 A=0.222 C=0.778
Korean Genome Project KOREAN Study-wide 1832 A=0.4694 C=0.5306
Genome-wide autozygosity in Daghestan Global Study-wide 1128 A=0.2952 C=0.7048
Genome-wide autozygosity in Daghestan Daghestan Sub 624 A=0.269 C=0.731
Genome-wide autozygosity in Daghestan Near_East Sub 142 A=0.275 C=0.725
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.320 C=0.680
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.306 C=0.694
Genome-wide autozygosity in Daghestan South Asian Sub 96 A=0.41 C=0.59
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=0.42 C=0.58
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.242 C=0.758
CNV burdens in cranial meningiomas Global Study-wide 790 A=0.391 C=0.609
CNV burdens in cranial meningiomas CRM Sub 790 A=0.391 C=0.609
Northern Sweden ACPOP Study-wide 600 A=0.233 C=0.767
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.301 C=0.699
SGDP_PRJ Global Study-wide 440 A=0.273 C=0.727
Qatari Global Study-wide 216 A=0.440 C=0.560
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.421 C=0.579
Siberian Global Study-wide 44 A=0.34 C=0.66
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 42 A=0.48 C=0.52
The Danish reference pan genome Danish Study-wide 40 A=0.47 C=0.53
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.222650187A>C
GRCh38.p14 chr 1 NC_000001.11:g.222650187A>G
GRCh38.p14 chr 1 NC_000001.11:g.222650187A>T
GRCh37.p13 chr 1 NC_000001.10:g.222823529A>C
GRCh37.p13 chr 1 NC_000001.10:g.222823529A>G
GRCh37.p13 chr 1 NC_000001.10:g.222823529A>T
Gene: MIA3, MIA SH3 domain ER export factor 3 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MIA3 transcript variant 2 NM_001300867.2:c.266-105A…

NM_001300867.2:c.266-105A>C

N/A Intron Variant
MIA3 transcript variant 3 NM_001324062.2:c.3632-105…

NM_001324062.2:c.3632-105A>C

N/A Intron Variant
MIA3 transcript variant 4 NM_001324063.2:c.3632-105…

NM_001324063.2:c.3632-105A>C

N/A Intron Variant
MIA3 transcript variant 5 NM_001324064.2:c.3140-105…

NM_001324064.2:c.3140-105A>C

N/A Intron Variant
MIA3 transcript variant 6 NM_001324065.2:c.266-105A…

NM_001324065.2:c.266-105A>C

N/A Intron Variant
MIA3 transcript variant 1 NM_198551.4:c.3632-105A>C N/A Intron Variant
MIA3 transcript variant X1 XM_006711304.5:c.3632-105…

XM_006711304.5:c.3632-105A>C

N/A Intron Variant
MIA3 transcript variant X3 XM_011509513.4:c.3632-105…

XM_011509513.4:c.3632-105A>C

N/A Intron Variant
MIA3 transcript variant X2 XM_017001243.3:c.3140-105…

XM_017001243.3:c.3140-105A>C

N/A Intron Variant
MIA3 transcript variant X4 XM_047419783.1:c.266-105A…

XM_047419783.1:c.266-105A>C

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.

Allele: G (allele ID: 1676460 )
ClinVar Accession Disease Names Clinical Significance
RCV002245538.1 Coronary artery disorder Benign
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= C G T
GRCh38.p14 chr 1 NC_000001.11:g.222650187= NC_000001.11:g.222650187A>C NC_000001.11:g.222650187A>G NC_000001.11:g.222650187A>T
GRCh37.p13 chr 1 NC_000001.10:g.222823529= NC_000001.10:g.222823529A>C NC_000001.10:g.222823529A>G NC_000001.10:g.222823529A>T
MIA3 transcript variant 2 NM_001300867.2:c.266-105= NM_001300867.2:c.266-105A>C NM_001300867.2:c.266-105A>G NM_001300867.2:c.266-105A>T
MIA3 transcript variant 3 NM_001324062.2:c.3632-105= NM_001324062.2:c.3632-105A>C NM_001324062.2:c.3632-105A>G NM_001324062.2:c.3632-105A>T
MIA3 transcript variant 4 NM_001324063.2:c.3632-105= NM_001324063.2:c.3632-105A>C NM_001324063.2:c.3632-105A>G NM_001324063.2:c.3632-105A>T
MIA3 transcript variant 5 NM_001324064.2:c.3140-105= NM_001324064.2:c.3140-105A>C NM_001324064.2:c.3140-105A>G NM_001324064.2:c.3140-105A>T
MIA3 transcript variant 6 NM_001324065.2:c.266-105= NM_001324065.2:c.266-105A>C NM_001324065.2:c.266-105A>G NM_001324065.2:c.266-105A>T
MIA3 transcript NM_198551.2:c.3632-105= NM_198551.2:c.3632-105A>C NM_198551.2:c.3632-105A>G NM_198551.2:c.3632-105A>T
MIA3 transcript variant 1 NM_198551.4:c.3632-105= NM_198551.4:c.3632-105A>C NM_198551.4:c.3632-105A>G NM_198551.4:c.3632-105A>T
MIA3 transcript variant X1 XM_005273121.1:c.3632-105= XM_005273121.1:c.3632-105A>C XM_005273121.1:c.3632-105A>G XM_005273121.1:c.3632-105A>T
MIA3 transcript variant X2 XM_005273122.1:c.266-105= XM_005273122.1:c.266-105A>C XM_005273122.1:c.266-105A>G XM_005273122.1:c.266-105A>T
MIA3 transcript variant X1 XM_006711304.5:c.3632-105= XM_006711304.5:c.3632-105A>C XM_006711304.5:c.3632-105A>G XM_006711304.5:c.3632-105A>T
MIA3 transcript variant X3 XM_011509513.4:c.3632-105= XM_011509513.4:c.3632-105A>C XM_011509513.4:c.3632-105A>G XM_011509513.4:c.3632-105A>T
MIA3 transcript variant X2 XM_017001243.3:c.3140-105= XM_017001243.3:c.3140-105A>C XM_017001243.3:c.3140-105A>G XM_017001243.3:c.3140-105A>T
MIA3 transcript variant X4 XM_047419783.1:c.266-105= XM_047419783.1:c.266-105A>C XM_047419783.1:c.266-105A>G XM_047419783.1:c.266-105A>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#.

152 SubSNP, 28 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss24256033 Sep 20, 2004 (123)
2 ABI ss41218461 Mar 15, 2006 (126)
3 PERLEGEN ss68794421 May 17, 2007 (127)
4 KRIBB_YJKIM ss83248087 Dec 15, 2007 (130)
5 BCMHGSC_JDW ss87983789 Mar 23, 2008 (129)
6 HUMANGENOME_JCVI ss98006415 Feb 05, 2009 (130)
7 BGI ss106635100 Feb 05, 2009 (130)
8 1000GENOMES ss108981038 Jan 23, 2009 (130)
9 ENSEMBL ss138160930 Dec 01, 2009 (131)
10 ENSEMBL ss139057668 Dec 01, 2009 (131)
11 GMI ss156334918 Dec 01, 2009 (131)
12 ILLUMINA ss160444544 Dec 01, 2009 (131)
13 COMPLETE_GENOMICS ss165839878 Jul 04, 2010 (132)
14 COMPLETE_GENOMICS ss167530796 Jul 04, 2010 (132)
15 PAGE_STUDY ss181341920 Jul 04, 2010 (132)
16 BCM-HGSC-SUB ss205218125 Jul 04, 2010 (132)
17 1000GENOMES ss210749370 Jul 14, 2010 (132)
18 1000GENOMES ss218904102 Jul 14, 2010 (132)
19 1000GENOMES ss230919391 Jul 14, 2010 (132)
20 1000GENOMES ss238528354 Jul 15, 2010 (132)
21 ILLUMINA ss244283742 Jul 04, 2010 (132)
22 BL ss253850309 May 09, 2011 (134)
23 GMI ss276233435 May 04, 2012 (137)
24 GMI ss284236289 Apr 25, 2013 (138)
25 PJP ss290742391 May 09, 2011 (134)
26 ILLUMINA ss410913876 Sep 17, 2011 (135)
27 ILLUMINA ss480243436 May 04, 2012 (137)
28 ILLUMINA ss480254248 May 04, 2012 (137)
29 ILLUMINA ss480994233 Sep 08, 2015 (146)
30 ILLUMINA ss484919670 May 04, 2012 (137)
31 EXOME_CHIP ss491311089 May 04, 2012 (137)
32 CLINSEQ_SNP ss491615734 May 04, 2012 (137)
33 ILLUMINA ss536970187 Sep 08, 2015 (146)
34 TISHKOFF ss555164425 Apr 25, 2013 (138)
35 SSMP ss648730989 Apr 25, 2013 (138)
36 ILLUMINA ss778461498 Sep 08, 2015 (146)
37 ILLUMINA ss780682482 Sep 08, 2015 (146)
38 ILLUMINA ss782906160 Sep 08, 2015 (146)
39 ILLUMINA ss783355834 Sep 08, 2015 (146)
40 ILLUMINA ss783869442 Sep 08, 2015 (146)
41 ILLUMINA ss832161031 Sep 08, 2015 (146)
42 ILLUMINA ss833917206 Sep 08, 2015 (146)
43 EVA-GONL ss976188465 Aug 21, 2014 (142)
44 JMKIDD_LAB ss1068635239 Aug 21, 2014 (142)
45 1000GENOMES ss1294813219 Aug 21, 2014 (142)
46 HAMMER_LAB ss1397273806 Sep 08, 2015 (146)
47 DDI ss1426124439 Apr 01, 2015 (144)
48 EVA_GENOME_DK ss1574707844 Apr 01, 2015 (144)
49 EVA_DECODE ss1585585649 Apr 01, 2015 (144)
50 EVA_UK10K_ALSPAC ss1602227903 Apr 01, 2015 (144)
51 EVA_UK10K_TWINSUK ss1645221936 Apr 01, 2015 (144)
52 EVA_EXAC ss1686067841 Apr 01, 2015 (144)
53 EVA_MGP ss1710944572 Apr 01, 2015 (144)
54 EVA_SVP ss1712408647 Apr 01, 2015 (144)
55 ILLUMINA ss1751900811 Sep 08, 2015 (146)
56 ILLUMINA ss1751900812 Sep 08, 2015 (146)
57 ILLUMINA ss1917742730 Feb 12, 2016 (147)
58 WEILL_CORNELL_DGM ss1919410636 Feb 12, 2016 (147)
59 ILLUMINA ss1946024392 Feb 12, 2016 (147)
60 ILLUMINA ss1958360573 Feb 12, 2016 (147)
61 GENOMED ss1966983768 Jul 19, 2016 (147)
62 JJLAB ss2020229325 Sep 14, 2016 (149)
63 ILLUMINA ss2094786768 Dec 20, 2016 (150)
64 ILLUMINA ss2095001819 Dec 20, 2016 (150)
65 USC_VALOUEV ss2148261244 Dec 20, 2016 (150)
66 HUMAN_LONGEVITY ss2170427042 Dec 20, 2016 (150)
67 SYSTEMSBIOZJU ss2624625349 Nov 08, 2017 (151)
68 ILLUMINA ss2632634678 Nov 08, 2017 (151)
69 ILLUMINA ss2632634679 Nov 08, 2017 (151)
70 GRF ss2698257173 Nov 08, 2017 (151)
71 ILLUMINA ss2710695598 Nov 08, 2017 (151)
72 GNOMAD ss2732294085 Nov 08, 2017 (151)
73 GNOMAD ss2746567315 Nov 08, 2017 (151)
74 GNOMAD ss2766670499 Nov 08, 2017 (151)
75 AFFY ss2984895305 Nov 08, 2017 (151)
76 AFFY ss2985539667 Nov 08, 2017 (151)
77 SWEGEN ss2988516901 Nov 08, 2017 (151)
78 ILLUMINA ss3021184094 Nov 08, 2017 (151)
79 BIOINF_KMB_FNS_UNIBA ss3023875034 Nov 08, 2017 (151)
80 CSHL ss3343931007 Nov 08, 2017 (151)
81 ILLUMINA ss3626318054 Oct 11, 2018 (152)
82 ILLUMINA ss3626318055 Oct 11, 2018 (152)
83 ILLUMINA ss3630664246 Oct 11, 2018 (152)
84 ILLUMINA ss3632927012 Oct 11, 2018 (152)
85 ILLUMINA ss3633623108 Oct 11, 2018 (152)
86 ILLUMINA ss3634374863 Oct 11, 2018 (152)
87 ILLUMINA ss3634374864 Oct 11, 2018 (152)
88 ILLUMINA ss3635316176 Oct 11, 2018 (152)
89 ILLUMINA ss3636053813 Oct 11, 2018 (152)
90 ILLUMINA ss3637066724 Oct 11, 2018 (152)
91 ILLUMINA ss3640082216 Oct 11, 2018 (152)
92 ILLUMINA ss3640082217 Oct 11, 2018 (152)
93 ILLUMINA ss3640993174 Oct 11, 2018 (152)
94 ILLUMINA ss3641287304 Oct 11, 2018 (152)
95 ILLUMINA ss3644520394 Oct 11, 2018 (152)
96 OMUKHERJEE_ADBS ss3646253714 Oct 11, 2018 (152)
97 URBANLAB ss3646895952 Oct 11, 2018 (152)
98 ILLUMINA ss3651529482 Oct 11, 2018 (152)
99 ILLUMINA ss3651529483 Oct 11, 2018 (152)
100 ILLUMINA ss3653665229 Oct 11, 2018 (152)
101 EGCUT_WGS ss3656478216 Jul 12, 2019 (153)
102 EVA_DECODE ss3688708325 Jul 12, 2019 (153)
103 ILLUMINA ss3725109280 Jul 12, 2019 (153)
104 ACPOP ss3727898553 Jul 12, 2019 (153)
105 ILLUMINA ss3744360489 Jul 12, 2019 (153)
106 ILLUMINA ss3744675723 Jul 12, 2019 (153)
107 ILLUMINA ss3744675724 Jul 12, 2019 (153)
108 EVA ss3747386010 Jul 12, 2019 (153)
109 PAGE_CC ss3770874724 Jul 12, 2019 (153)
110 ILLUMINA ss3772176618 Jul 12, 2019 (153)
111 ILLUMINA ss3772176619 Jul 12, 2019 (153)
112 PACBIO ss3783698505 Jul 12, 2019 (153)
113 PACBIO ss3789309046 Jul 12, 2019 (153)
114 PACBIO ss3794181405 Jul 12, 2019 (153)
115 KHV_HUMAN_GENOMES ss3800389198 Jul 12, 2019 (153)
116 EVA ss3825588644 Apr 25, 2020 (154)
117 EVA ss3826665165 Apr 25, 2020 (154)
118 EVA ss3836733294 Apr 25, 2020 (154)
119 EVA ss3842145348 Apr 25, 2020 (154)
120 SGDP_PRJ ss3850981054 Apr 25, 2020 (154)
121 KRGDB ss3896304661 Apr 25, 2020 (154)
122 KOGIC ss3946570643 Apr 25, 2020 (154)
123 FSA-LAB ss3983963951 Apr 25, 2021 (155)
124 FSA-LAB ss3983963952 Apr 25, 2021 (155)
125 EVA ss3984472655 Apr 25, 2021 (155)
126 EVA ss3984854721 Apr 25, 2021 (155)
127 EVA ss3986160013 Apr 25, 2021 (155)
128 TOPMED ss4485012044 Apr 25, 2021 (155)
129 TOMMO_GENOMICS ss5148611837 Apr 25, 2021 (155)
130 1000G_HIGH_COVERAGE ss5245935917 Oct 13, 2022 (156)
131 EVA ss5314685583 Oct 13, 2022 (156)
132 HUGCELL_USP ss5446360690 Oct 13, 2022 (156)
133 EVA ss5506202403 Oct 13, 2022 (156)
134 1000G_HIGH_COVERAGE ss5520107604 Oct 13, 2022 (156)
135 EVA ss5624003334 Oct 13, 2022 (156)
136 SANFORD_IMAGENETICS ss5624231088 Oct 13, 2022 (156)
137 SANFORD_IMAGENETICS ss5627528394 Oct 13, 2022 (156)
138 TOMMO_GENOMICS ss5676422490 Oct 13, 2022 (156)
139 EVA ss5799512959 Oct 13, 2022 (156)
140 EVA ss5800090188 Oct 13, 2022 (156)
141 YY_MCH ss5801673303 Oct 13, 2022 (156)
142 EVA ss5833318570 Oct 13, 2022 (156)
143 EVA ss5847175295 Oct 13, 2022 (156)
144 EVA ss5847575502 Oct 13, 2022 (156)
145 EVA ss5848286355 Oct 13, 2022 (156)
146 EVA ss5849302624 Oct 13, 2022 (156)
147 EVA ss5912139074 Oct 13, 2022 (156)
148 EVA ss5936514032 Oct 13, 2022 (156)
149 EVA ss5939371217 Oct 13, 2022 (156)
150 EVA ss5979306314 Oct 13, 2022 (156)
151 EVA ss5980016911 Oct 13, 2022 (156)
152 EVA ss5981201043 Oct 13, 2022 (156)
153 1000Genomes NC_000001.10 - 222823529 Oct 11, 2018 (152)
154 1000Genomes_30x NC_000001.11 - 222650187 Oct 13, 2022 (156)
155 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 222823529 Oct 11, 2018 (152)
156 Genome-wide autozygosity in Daghestan NC_000001.9 - 220890152 Apr 25, 2020 (154)
157 Genetic variation in the Estonian population NC_000001.10 - 222823529 Oct 11, 2018 (152)
158 ExAC NC_000001.10 - 222823529 Oct 11, 2018 (152)
159 The Danish reference pan genome NC_000001.10 - 222823529 Apr 25, 2020 (154)
160 gnomAD - Genomes NC_000001.11 - 222650187 Apr 25, 2021 (155)
161 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 1330487 (NC_000001.10:222823528:A:A 55488/155216, NC_000001.10:222823528:A:C 99728/155216)
Row 1330488 (NC_000001.10:222823528:A:A 155215/155216, NC_000001.10:222823528:A:G 1/155216)

- Jul 12, 2019 (153)
162 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 1330487 (NC_000001.10:222823528:A:A 55488/155216, NC_000001.10:222823528:A:C 99728/155216)
Row 1330488 (NC_000001.10:222823528:A:A 155215/155216, NC_000001.10:222823528:A:G 1/155216)

- Jul 12, 2019 (153)
163 Genome of the Netherlands Release 5 NC_000001.10 - 222823529 Apr 25, 2020 (154)
164 HapMap NC_000001.11 - 222650187 Apr 25, 2020 (154)
165 KOREAN population from KRGDB NC_000001.10 - 222823529 Apr 25, 2020 (154)
166 Korean Genome Project NC_000001.11 - 222650187 Apr 25, 2020 (154)
167 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 222823529 Apr 25, 2020 (154)
168 Northern Sweden NC_000001.10 - 222823529 Jul 12, 2019 (153)
169 The PAGE Study NC_000001.11 - 222650187 Jul 12, 2019 (153)
170 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 222823529 Apr 25, 2021 (155)
171 CNV burdens in cranial meningiomas NC_000001.10 - 222823529 Apr 25, 2021 (155)
172 Qatari NC_000001.10 - 222823529 Apr 25, 2020 (154)
173 SGDP_PRJ NC_000001.10 - 222823529 Apr 25, 2020 (154)
174 Siberian NC_000001.10 - 222823529 Apr 25, 2020 (154)
175 8.3KJPN NC_000001.10 - 222823529 Apr 25, 2021 (155)
176 14KJPN NC_000001.11 - 222650187 Oct 13, 2022 (156)
177 TopMed NC_000001.11 - 222650187 Apr 25, 2021 (155)
178 UK 10K study - Twins NC_000001.10 - 222823529 Oct 11, 2018 (152)
179 A Vietnamese Genetic Variation Database NC_000001.10 - 222823529 Jul 12, 2019 (153)
180 ALFA NC_000001.11 - 222650187 Apr 25, 2021 (155)
181 ClinVar RCV002245538.1 Oct 13, 2022 (156)
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)
rs59865390 Feb 26, 2009 (130)
rs111195493 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
34918, ss87983789, ss108981038, ss165839878, ss167530796, ss205218125, ss210749370, ss253850309, ss276233435, ss284236289, ss290742391, ss480243436, ss491615734, ss1397273806, ss1585585649, ss1712408647 NC_000001.9:220890151:A:C NC_000001.11:222650186:A:C (self)
5673467, 3135324, 2216464, 5305259, 1902717, 1370804, 3482055, 61324, 1183418, 80648, 21976, 1452566, 2998034, 777598, 6581144, 3135324, 680235, ss218904102, ss230919391, ss238528354, ss480254248, ss480994233, ss484919670, ss491311089, ss536970187, ss555164425, ss648730989, ss778461498, ss780682482, ss782906160, ss783355834, ss783869442, ss832161031, ss833917206, ss976188465, ss1068635239, ss1294813219, ss1426124439, ss1574707844, ss1602227903, ss1645221936, ss1686067841, ss1710944572, ss1751900811, ss1751900812, ss1917742730, ss1919410636, ss1946024392, ss1958360573, ss1966983768, ss2020229325, ss2094786768, ss2095001819, ss2148261244, ss2624625349, ss2632634678, ss2632634679, ss2698257173, ss2710695598, ss2732294085, ss2746567315, ss2766670499, ss2984895305, ss2985539667, ss2988516901, ss3021184094, ss3343931007, ss3626318054, ss3626318055, ss3630664246, ss3632927012, ss3633623108, ss3634374863, ss3634374864, ss3635316176, ss3636053813, ss3637066724, ss3640082216, ss3640082217, ss3640993174, ss3641287304, ss3644520394, ss3646253714, ss3651529482, ss3651529483, ss3653665229, ss3656478216, ss3727898553, ss3744360489, ss3744675723, ss3744675724, ss3747386010, ss3772176618, ss3772176619, ss3783698505, ss3789309046, ss3794181405, ss3825588644, ss3826665165, ss3836733294, ss3850981054, ss3896304661, ss3983963951, ss3983963952, ss3984472655, ss3984854721, ss3986160013, ss5148611837, ss5314685583, ss5506202403, ss5624003334, ss5624231088, ss5627528394, ss5799512959, ss5800090188, ss5833318570, ss5847175295, ss5847575502, ss5848286355, ss5936514032, ss5939371217, ss5979306314, ss5980016911, ss5981201043 NC_000001.10:222823528:A:C NC_000001.11:222650186:A:C (self)
7633539, 40747821, 277930, 2948644, 96193, 10259594, 48618379, 9436086559, ss2170427042, ss3023875034, ss3646895952, ss3688708325, ss3725109280, ss3770874724, ss3800389198, ss3842145348, ss3946570643, ss4485012044, ss5245935917, ss5446360690, ss5520107604, ss5676422490, ss5801673303, ss5849302624, ss5912139074 NC_000001.11:222650186:A:C NC_000001.11:222650186:A:C (self)
ss24256033, ss41218461, ss68794421, ss83248087, ss98006415, ss106635100, ss138160930, ss139057668, ss156334918, ss160444544, ss181341920, ss244283742, ss410913876 NT_167186.1:16341307:A:C NC_000001.11:222650186:A:C (self)
ss2732294085 NC_000001.10:222823528:A:G NC_000001.11:222650186:A:G (self)
RCV002245538.1 NC_000001.11:222650186:A:G NC_000001.11:222650186:A:G
9436086559 NC_000001.11:222650186:A:T NC_000001.11:222650186:A:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

65 citations for rs17465637
PMID Title Author Year Journal
17634449 Genomewide association analysis of coronary artery disease. Samani NJ et al. 2007 The New England journal of medicine
18654002 Validation of the association of genetic variants on chromosome 9p21 and 1q41 with myocardial infarction in a Japanese population. Hiura Y et al. 2008 Circulation journal
18979498 The impact of newly identified loci on coronary heart disease, stroke and total mortality in the MORGAM prospective cohorts. Karvanen J et al. 2009 Genetic epidemiology
19164808 Large scale association analysis of novel genetic loci for coronary artery disease. Samani NJ et al. 2009 Arteriosclerosis, thrombosis, and vascular biology
19198609 Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Kathiresan S et al. 2009 Nature genetics
19207022 Genome-wide association studies of coronary artery disease and heart failure: where are we going? Dorn GW et al. 2009 Pharmacogenomics
19750184 Genome-wide association studies for atherosclerotic vascular disease and its risk factors. Ding K et al. 2009 Circulation. Cardiovascular genetics
19955471 Genetic variants identified in a European genome-wide association study that were found to predict incident coronary heart disease in the atherosclerosis risk in communities study. Bressler J et al. 2010 American journal of epidemiology
19956433 Genetics of coronary artery disease: focus on genome-wide association studies. Baudhuin LM et al. 2009 American journal of translational research
20017983 Evaluation of population impact of candidate polymorphisms for coronary heart disease in the Framingham Heart Study Offspring Cohort. Yan Y et al. 2009 BMC proceedings
20098575 Genetics and cardiovascular disease: Design and development of a DNA biobank. Jayasinghe SR et al. 2009 Experimental and clinical cardiology
20159871 Association between a literature-based genetic risk score and cardiovascular events in women. Paynter NP et al. 2010 JAMA
20729558 Improved prediction of cardiovascular disease based on a panel of single nucleotide polymorphisms identified through genome-wide association studies. Davies RW et al. 2010 Circulation. Cardiovascular genetics
20835900 Genetics of diabetes complications. Doria A et al. 2010 Current diabetes reports
20971364 A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses. Ripatti S et al. 2010 Lancet (London, England)
20981302 Genome-wide association study of coronary artery disease. Ogawa N et al. 2010 International journal of hypertension
21239051 Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies. Reilly MP et al. 2011 Lancet (London, England)
21264445 Extended evidence for association between the melanoma inhibitory activity 3 gene and myocardial infarction. Koch W et al. 2011 Thrombosis and haemostasis
21369780 Genome-wide association studies in atherosclerosis. Sivapalaratnam S et al. 2011 Current atherosclerosis reports
21378990 Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Schunkert H et al. 2011 Nature genetics
21463265 Association of SNP rs17465637 on chromosome 1q41 and rs599839 on 1p13.3 with myocardial infarction in an American caucasian population. Wang AZ et al. 2011 Annals of human genetics
21698238 Replication of putative susceptibility loci from genome-wide association studies associated with coronary atherosclerosis in Chinese Han population. Xie F et al. 2011 PloS one
21804106 Comparative analysis of genome-wide association studies signals for lipids, diabetes, and coronary heart disease: Cardiovascular Biomarker Genetics Collaboration. Angelakopoulou A et al. 2012 European heart journal
21860704 Implications of discoveries from genome-wide association studies in current cardiovascular practice. Jeemon P et al. 2011 World journal of cardiology
21875899 Thirty-five common variants for coronary artery disease: the fruits of much collaborative labour. Peden JF et al. 2011 Human molecular genetics
21984477 Genomic risk variants at 1p13.3, 1q41, and 3q22.3 are associated with subsequent cardiovascular outcomes in healthy controls and in established coronary artery disease. Ellis KL et al. 2011 Circulation. Cardiovascular genetics
22042884 Association of genetic variants and incident coronary heart disease in multiethnic cohorts: the PAGE study. Franceschini N et al. 2011 Circulation. Cardiovascular genetics
22144573 Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction. O'Donnell CJ et al. 2011 Circulation
22152955 Genetic susceptibility to coronary heart disease in type 2 diabetes: 3 independent studies. Qi L et al. 2011 Journal of the American College of Cardiology
22199011 Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies. Murabito JM et al. 2012 Circulation. Cardiovascular genetics
22295058 Genetic profiling using genome-wide significant coronary artery disease risk variants does not improve the prediction of subclinical atherosclerosis: the Cardiovascular Risk in Young Finns Study, the Bogalusa Heart Study and the Health 2000 Survey--a meta-analysis of three independent studies. Hernesniemi JA et al. 2012 PloS one
22363065 Are myocardial infarction--associated single-nucleotide polymorphisms associated with ischemic stroke? Cheng YC et al. 2012 Stroke
22429504 Genetic predisposition to coronary heart disease and stroke using an additive genetic risk score: a population-based study in Greece. Yiannakouris N et al. 2012 Atherosclerosis
22577832 Association study of MIA3 rs17465637 polymorphism with cardiovascular disease in rheumatoid arthritis patients. García-Bermúdez M et al. 2012 DNA and cell biology
22588700 Genetics of coronary artery disease in the 21st century. Roberts R et al. 2012 Clinical cardiology
23024462 Atherosclerosis and rheumatoid arthritis: more than a simple association. Cavagna L et al. 2012 Mediators of inflammation
23236363 Meta-analyses of KIF6 Trp719Arg in coronary heart disease and statin therapeutic effect. Peng P et al. 2012 PloS one
23468967 Improvement in prediction of coronary heart disease risk over conventional risk factors using SNPs identified in genome-wide association studies. Bolton JL et al. 2013 PloS one
24125424 Meta-analysis identifies robust association between SNP rs17465637 in MIA3 on chromosome 1q41 and coronary artery disease. Li X et al. 2013 Atherosclerosis
24932356 Genetics of coronary artery disease: an update. Roberts R et al. 2014 Methodist DeBakey cardiovascular journal
25542012 Prospective associations of coronary heart disease loci in African Americans using the MetaboChip: the PAGE study. Franceschini N et al. 2014 PloS one
26252781 Potential Signals of Natural Selection in the Top Risk Loci for Coronary Artery Disease: 9p21 and 10q11. Zanetti D et al. 2015 PloS one
26847647 Experimental Biology for the Identification of Causal Pathways in Atherosclerosis. Guo Y et al. 2016 Cardiovascular drugs and therapy
26892960 From Loci to Biology: Functional Genomics of Genome-Wide Association for Coronary Disease. Nurnberg ST et al. 2016 Circulation research
26958643 Detailed analysis of association between common single nucleotide polymorphisms and subclinical atherosclerosis: The Multi-ethnic Study of Atherosclerosis. Vargas JD et al. 2016 Data in brief
26971241 Influence of Genetic Risk Factors on Coronary Heart Disease Occurrence in Afro-Caribbeans. Larifla L et al. 2016 The Canadian journal of cardiology
27189168 The impact of genome-wide association studies on the pathophysiology and therapy of cardiovascular disease. Kessler T et al. 2016 EMBO molecular medicine
27294088 Genetics of the acute coronary syndrome. Franchini M et al. 2016 Annals of translational medicine
27386434 Zinc Finger 259 Gene Polymorphism rs964184 is Associated with Serum Triglyceride Levels and Metabolic Syndrome. Mirhafez SR et al. 2016 International journal of molecular and cellular medicine
27716211 A 19-SNP coronary heart disease gene score profile in subjects with type 2 diabetes: the coronary heart disease risk in type 2 diabetes (CoRDia study) study baseline characteristics. Beaney KE et al. 2016 Cardiovascular diabetology
28088267 A meta-analysis of three identified single nucleotide polymorphisms at 1p13.3 and 1q41 and their associations with lipid levels and coronary artery disease. He QC et al. 2017 The Kaohsiung journal of medical sciences
28167353 Genetic risk analysis of coronary artery disease in Pakistani subjects using a genetic risk score of 21 variants. Shahid SU et al. 2017 Atherosclerosis
28400043 Association of the genetic markers for myocardial infarction with sudden cardiac death. Ivanova AA et al. 2017 Indian heart journal
28686695 Coronary artery disease-associated genetic variants and biomarkers of inflammation. Christiansen MK et al. 2017 PloS one
28705542 Effect of Coronary Artery Disease risk SNPs on serum cytokine levels and cytokine imbalance in Premature Coronary Artery Disease. Ansari WM et al. 2019 Cytokine
28856136 Impact of a Genetic Risk Score for Coronary Artery Disease on Reducing Cardiovascular Risk: A Pilot Randomized Controlled Study. Knowles JW et al. 2017 Frontiers in cardiovascular medicine
29673405 GWAS implicated risk variants in different genes contribute additively to increase the risk of coronary artery disease (CAD) in the Pakistani subjects. Shahid SU et al. 2018 Lipids in health and disease
29972410 Genetic Risk Analysis of Coronary Artery Disease in a Population-based Study in Portugal, Using a Genetic Risk Score of 31 Variants. Pereira A et al. 2018 Arquivos brasileiros de cardiologia
30571812 Additional value of a combined genetic risk score to standard cardiovascular stratification. Pereira A et al. 2018 Genetics and molecular biology
31804579 The Mediterranean diet reduces the genetic risk of chromosome 9p21 for myocardial infarction in an Asian population community cohort. Leu HB et al. 2019 Scientific reports
31845553 Precision Medicine and Cardiovascular Health: Insights from Mendelian Randomization Analyses. Spiller W et al. 2020 Korean circulation journal
32237974 Statistical and Functional Studies Identify Epistasis of Cardiovascular Risk Genomic Variants From Genome-Wide Association Studies. Li Y et al. 2020 Journal of the American Heart Association
33581269 Low HDL concentration in rs2048327-G carriers can predispose men to develop coronary heart disease: Tehran Cardiometabolic genetic study (TCGS). Najd Hassan Bonab L et al. 2021 Gene
34137427 Genetic information improves the prediction of major adverse cardiovascular events in the GENEMACOR population. Mendonça MI et al. 2021 Genetics and molecular biology
34276231 Epicardial Adipose Tissue: The Genetics Behind an Emerging Cardiovascular Risk Marker. Sousa JA et al. 2021 Clinical Medicine Insights. Cardiology
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.post774+babeb33