chr2:226203364:A>C Detail (hg38)

Information

Genome

Assembly Position
hg19 chr2:227,068,080-227,068,080 View the variant detail on this assembly version.
hg38 chr2:226,203,364-226,203,364

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.896
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.006 Metabolic syndrome X In this study we found support for the hypothesis that weight regulation and ins... BeFree 23101478 Detail
0.087 Metabolic syndrome X In this study we found support for the hypothesis that weight regulation and ins... BeFree 23101478 Detail
0.002 Coronary heart disease [We identified several genetic loci that, individually and in aggregate, substan... GAD 17634449 Detail
0.127 coronary artery disease We tested 1) four SNPs previously shown to be associated with IR (rs2972146, rs2... BeFree 23659870 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
In this study we found support for the hypothesis that weight regulation and insulin metabolism are ... DisGeNET Detail
In this study we found support for the hypothesis that weight regulation and insulin metabolism are ... DisGeNET Detail
[We identified several genetic loci that, individually and in aggregate, substantially affect the ri... DisGeNET Detail
We tested 1) four SNPs previously shown to be associated with IR (rs2972146, rs2943650), T2D (rs2943... 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
Gene
-
dbSNP
rs2943634 dbSNP
Genome
hg38
Position
chr2:226,203,364-226,203,364
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))
rs2943634
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8958
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15013
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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