rs56298569
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs56298569(C;G) |
Make rs56298569(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 11755082 |
Gene | GATA4 |
is a | snp |
is | mentioned by |
dbSNP | rs56298569 |
dbSNP (classic) | rs56298569 |
ClinGen | rs56298569 |
ebi | rs56298569 |
HLI | rs56298569 |
Exac | rs56298569 |
Gnomad | rs56298569 |
Varsome | rs56298569 |
LitVar | rs56298569 |
Map | rs56298569 |
PheGenI | rs56298569 |
Biobank | rs56298569 |
1000 genomes | rs56298569 |
hgdp | rs56298569 |
ensembl | rs56298569 |
geneview | rs56298569 |
scholar | rs56298569 |
rs56298569 | |
pharmgkb | rs56298569 |
gwascentral | rs56298569 |
openSNP | rs56298569 |
23andMe | rs56298569 |
SNPshot | rs56298569 |
SNPdbe | rs56298569 |
MSV3d | rs56298569 |
GWAS Ctlg | rs56298569 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs56298569(G;G) rs56298569(T;T) |
Alt | rs56298569(G;G) rs56298569(T;T) |
Reference | Rs56298569(C;C) |
Significance | Pathogenic |
Disease | Atrial septal defect 2 |
Variation | info |
Gene | GATA4 |
CLNDBN | Atrial septal defect 2 |
Reversed | 0 |
HGVS | NC_000008.10:g.11612591C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009599.2, |