chr8:126490972:A>T Detail (hg19)

Information

Genome

Assembly Position
hg19 chr8:126,490,972-126,490,972
hg38 chr8:125,478,730-125,478,730 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.484
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
0.005 myocardial infarction The goal of this study was to test whether TRIB1-rs2954029 and GCKR-rs1260326 as... BeFree 21071687 Detail
0.005 myocardial infarction The goal of this study was to test whether TRIB1-rs2954029 and GCKR-rs1260326 as... BeFree 21071687 Detail
Annotation

Annotations

DescrptionSourceLinks
The goal of this study was to test whether TRIB1-rs2954029 and GCKR-rs1260326 associate with lipid l... DisGeNET Detail
The goal of this study was to test whether TRIB1-rs2954029 and GCKR-rs1260326 associate with lipid l... DisGeNET Detail
Gene
-
dbSNP
rs2954029 dbSNP
Genome
hg19
Position
chr8:126,490,972-126,490,972
Variant Type
snv
Reference Allele
A
Alternative Allele
T
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))
rs2954029
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4837
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8107
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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