chr1:222650187:A>C Detail (hg38) (MIA3)

Information

Genome

Assembly Position
hg19 chr1:222,823,529-222,823,529 View the variant detail on this assembly version.
hg38 chr1:222,650,187-222,650,187

HGVS

Type Transcript Protein
RefSeq NM_001300867.1:c.266-105A>C
NM_001324065.1:c.266-105A>C
NM_001324062.1:c.3632-105A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.542
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.624

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 613455 OMIM
HGNC 24008 HGNC
Ensembl ENSG00000154305 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv4924960 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.126 Coronary heart disease Genomewide association analysis of coronary artery disease. GWASCAT 17634449 Detail
<0.001 Coronary heart disease In a genome-wide scan, isolated single nucleotide polymorphisms (SNPs), includin... BeFree 21264445 Detail
<0.001 Coronary Arteriosclerosis Genome-wide association studies have described an association between MIA3 rs174... BeFree 22577832 Detail
0.130 coronary artery disease Meta-analysis identifies robust association between SNP rs17465637 in MIA3 on ch... BeFree 24125424 Detail
0.245 myocardial infarction Genome-wide association of early-onset myocardial infarction with single nucleot... GWASCAT 19198609 Detail
0.126 Coronary heart disease [We identified several genetic loci that, individually and in aggregate, substan... GAD 17634449 Detail
0.126 Coronary heart disease Genome-wide association studies have described an association between MIA3 rs174... BeFree 22577832 Detail
<0.001 Coronary Arteriosclerosis Meta-analysis identifies robust association between SNP rs17465637 in MIA3 on ch... BeFree 24125424 Detail
0.126 Coronary heart disease Meta-analysis identifies robust association between SNP rs17465637 in MIA3 on ch... BeFree 24125424 Detail
0.245 myocardial infarction [Genome-wide association of early-onset myocardial infarction with single nucleo... GAD 19198609 Detail
0.130 coronary artery disease Genome-wide association studies have described an association between MIA3 rs174... BeFree 22577832 Detail
0.245 myocardial infarction Genome-wide association studies have described an association between MIA3 rs174... BeFree 22577832 Detail
<0.001 Coronary Arteriosclerosis In a genome-wide scan, isolated single nucleotide polymorphisms (SNPs), includin... BeFree 21264445 Detail
0.126 Coronary heart disease Large-scale association analysis identifies 13 new susceptibility loci for coron... GWASCAT 21378990 Detail
<0.001 coronary artery disease In a genome-wide scan, isolated single nucleotide polymorphisms (SNPs), includin... BeFree 21264445 Detail
0.130 coronary artery disease [Large-scale association analysis identifies 13 new susceptibility loci for coro... GAD 21378990 Detail
<0.001 Coronary heart disease The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... BeFree 21804106 Detail
0.007 Coronary heart disease The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... BeFree 21804106 Detail
0.123 Coronary heart disease The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... BeFree 21804106 Detail
0.123 Coronary heart disease The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... BeFree 21804106 Detail
0.126 Coronary heart disease The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... BeFree 21804106 Detail
0.005 Coronary heart disease The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... BeFree 21804106 Detail
Annotation

Annotations

DescrptionSourceLinks
Genomewide association analysis of coronary artery disease. DisGeNET Detail
In a genome-wide scan, isolated single nucleotide polymorphisms (SNPs), including rs17465637, in the... DisGeNET Detail
Genome-wide association studies have described an association between MIA3 rs17465637 A/C polymorphi... DisGeNET Detail
Meta-analysis identifies robust association between SNP rs17465637 in MIA3 on chromosome 1q41 and co... DisGeNET Detail
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms an... DisGeNET Detail
[We identified several genetic loci that, individually and in aggregate, substantially affect the ri... DisGeNET Detail
Genome-wide association studies have described an association between MIA3 rs17465637 A/C polymorphi... DisGeNET Detail
Meta-analysis identifies robust association between SNP rs17465637 in MIA3 on chromosome 1q41 and co... DisGeNET Detail
Meta-analysis identifies robust association between SNP rs17465637 in MIA3 on chromosome 1q41 and co... DisGeNET Detail
[Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms a... DisGeNET Detail
Genome-wide association studies have described an association between MIA3 rs17465637 A/C polymorphi... DisGeNET Detail
Genome-wide association studies have described an association between MIA3 rs17465637 A/C polymorphi... DisGeNET Detail
In a genome-wide scan, isolated single nucleotide polymorphisms (SNPs), including rs17465637, in the... DisGeNET Detail
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. DisGeNET Detail
In a genome-wide scan, isolated single nucleotide polymorphisms (SNPs), including rs17465637, in the... DisGeNET Detail
[Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.... DisGeNET Detail
The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... DisGeNET Detail
The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... DisGeNET Detail
The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... DisGeNET Detail
The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... DisGeNET Detail
The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... DisGeNET Detail
The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs17465637 dbSNP
Genome
hg38
Position
chr1:222,650,187-222,650,187
Variant Type
snv
Reference Allele
A
Alternative Allele
C
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs17465637
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5417
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9079
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
636
East Asian Allele Counts (ExAC)
397
East Asian Heterozygous Counts (ExAC)
155
East Asian Homozygous Counts (ExAC)
121
East Asian Allele Frequency (ExAC)
0.6242138364779874
Chromosome Counts in All Race (ExAC)
22504
Allele Counts in All Race (ExAC)
14725
Heterozygous Counts in All Race (ExAC)
4791
Homozygous Counts in All Race (ExAC)
4967
Allele Frequency in All Race (ExAC)
0.6543281194454319
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