rs56208331
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs56208331(A;A) |
Make rs56208331(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 11758419 |
Gene | GATA4 |
is a | snp |
is | mentioned by |
dbSNP | rs56208331 |
dbSNP (classic) | rs56208331 |
ClinGen | rs56208331 |
ebi | rs56208331 |
HLI | rs56208331 |
Exac | rs56208331 |
Gnomad | rs56208331 |
Varsome | rs56208331 |
LitVar | rs56208331 |
Map | rs56208331 |
PheGenI | rs56208331 |
Biobank | rs56208331 |
1000 genomes | rs56208331 |
hgdp | rs56208331 |
ensembl | rs56208331 |
geneview | rs56208331 |
scholar | rs56208331 |
rs56208331 | |
pharmgkb | rs56208331 |
gwascentral | rs56208331 |
openSNP | rs56208331 |
23andMe | rs56208331 |
SNPshot | rs56208331 |
SNPdbe | rs56208331 |
MSV3d | rs56208331 |
GWAS Ctlg | rs56208331 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs56208331(A;A) rs56208331(T;T) |
Alt | rs56208331(A;A) rs56208331(T;T) |
Reference | Rs56208331(G;G) |
Significance | Pathogenic |
Disease | Atrial septal defect 2 Tetralogy of Fallot Inborn genetic diseases not provided |
Variation | info |
Gene | GATA4 |
CLNDBN | Atrial septal defect 2 Tetralogy of Fallot Inborn genetic diseases not provided |
Reversed | 0 |
HGVS | NC_000008.10:g.11615928G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009600.3, RCV000009601.3, RCV000190715.1, RCV000431077.1, |