chr15:62141763:A>G Detail (hg38)

Information

Genome

Assembly Position
hg19 chr15:62,433,962-62,433,962 View the variant detail on this assembly version.
hg38 chr15:62,141,763-62,141,763

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.286
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
<0.001 Cardiovascular Diseases GCKR rs780094 (1.076, 1.010-1.146, P = 0.0229), C2CD4B rs11071657 (1.067, 1.003-... BeFree 23185617 Detail
<0.001 Cardiovascular Diseases GCKR rs780094 (1.076, 1.010-1.146, P = 0.0229), C2CD4B rs11071657 (1.067, 1.003-... BeFree 23185617 Detail
0.127 Cardiovascular Diseases GCKR rs780094 (1.076, 1.010-1.146, P = 0.0229), C2CD4B rs11071657 (1.067, 1.003-... BeFree 23185617 Detail
<0.001 diabetes mellitus In the Danish MONICA study four gene variants were significantly associated with... BeFree 23185617 Detail
0.009 diabetes mellitus In the Danish MONICA study four gene variants were significantly associated with... BeFree 23185617 Detail
<0.001 diabetes mellitus In the Danish MONICA study four gene variants were significantly associated with... BeFree 23185617 Detail
<0.001 Diabetes In the Danish MONICA study four gene variants were significantly associated with... BeFree 23185617 Detail
0.002 Diabetes In the Danish MONICA study four gene variants were significantly associated with... BeFree 23185617 Detail
<0.001 Diabetes In the Danish MONICA study four gene variants were significantly associated with... BeFree 23185617 Detail
Annotation

Annotations

DescrptionSourceLinks
GCKR rs780094 (1.076, 1.010-1.146, P = 0.0229), C2CD4B rs11071657 (1.067, 1.003-1.135, P = 0.0385) a... DisGeNET Detail
GCKR rs780094 (1.076, 1.010-1.146, P = 0.0229), C2CD4B rs11071657 (1.067, 1.003-1.135, P = 0.0385) a... DisGeNET Detail
GCKR rs780094 (1.076, 1.010-1.146, P = 0.0229), C2CD4B rs11071657 (1.067, 1.003-1.135, P = 0.0385) a... DisGeNET Detail
In the Danish MONICA study four gene variants were significantly associated with incident CVD indepe... DisGeNET Detail
In the Danish MONICA study four gene variants were significantly associated with incident CVD indepe... DisGeNET Detail
In the Danish MONICA study four gene variants were significantly associated with incident CVD indepe... DisGeNET Detail
In the Danish MONICA study four gene variants were significantly associated with incident CVD indepe... DisGeNET Detail
In the Danish MONICA study four gene variants were significantly associated with incident CVD indepe... DisGeNET Detail
In the Danish MONICA study four gene variants were significantly associated with incident CVD indepe... DisGeNET Detail
Gene
-
dbSNP
rs11071657 dbSNP
Genome
hg38
Position
chr15:62,141,763-62,141,763
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs11071657
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2864
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4800
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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