rs115372595
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs115372595(C;T) |
Make rs115372595(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 11756974 |
Gene | GATA4 |
is a | snp |
is | mentioned by |
dbSNP | rs115372595 |
dbSNP (classic) | rs115372595 |
ClinGen | rs115372595 |
ebi | rs115372595 |
HLI | rs115372595 |
Exac | rs115372595 |
Gnomad | rs115372595 |
Varsome | rs115372595 |
LitVar | rs115372595 |
Map | rs115372595 |
PheGenI | rs115372595 |
Biobank | rs115372595 |
1000 genomes | rs115372595 |
hgdp | rs115372595 |
ensembl | rs115372595 |
geneview | rs115372595 |
scholar | rs115372595 |
rs115372595 | |
pharmgkb | rs115372595 |
gwascentral | rs115372595 |
openSNP | rs115372595 |
23andMe | rs115372595 |
SNPshot | rs115372595 |
SNPdbe | rs115372595 |
MSV3d | rs115372595 |
GWAS Ctlg | rs115372595 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs115372595(T;T) |
Alt | rs115372595(T;T) |
Reference | Rs115372595(C;C) |
Significance | Other |
Disease | Atrioventricular septal defect 4 |
Variation | info |
Gene | GATA4 |
CLNDBN | Atrioventricular septal defect 4 |
Reversed | 0 |
HGVS | NC_000008.10:g.11614483C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023005.5, |