chr16:56993161:G>A Detail (hg19)

Information

Genome

Assembly Position
hg19 chr16:56,993,161-56,993,161
hg38 chr16:56,959,249-56,959,249 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:0.206
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
0.068 myocardial infarction Among 3,717 patients with acute coronary syndrome or coronary artery bypass graf... BeFree 23891427 Detail
0.009 Acute coronary syndrome Among 3,717 patients with acute coronary syndrome or coronary artery bypass graf... BeFree 23891427 Detail
Annotation

Annotations

DescrptionSourceLinks
Among 3,717 patients with acute coronary syndrome or coronary artery bypass grafting (CABG) enrolled... DisGeNET Detail
Among 3,717 patients with acute coronary syndrome or coronary artery bypass grafting (CABG) enrolled... DisGeNET Detail
Gene
-
dbSNP
rs12149545 dbSNP
Genome
hg19
Position
chr16:56,993,161-56,993,161
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs12149545
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2055
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3445
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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