rs146017816
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs146017816(C;G) |
Make rs146017816(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 11758471 |
Gene | GATA4 |
is a | snp |
is | mentioned by |
dbSNP | rs146017816 |
dbSNP (classic) | rs146017816 |
ClinGen | rs146017816 |
ebi | rs146017816 |
HLI | rs146017816 |
Exac | rs146017816 |
Gnomad | rs146017816 |
Varsome | rs146017816 |
LitVar | rs146017816 |
Map | rs146017816 |
PheGenI | rs146017816 |
Biobank | rs146017816 |
1000 genomes | rs146017816 |
hgdp | rs146017816 |
ensembl | rs146017816 |
geneview | rs146017816 |
scholar | rs146017816 |
rs146017816 | |
pharmgkb | rs146017816 |
gwascentral | rs146017816 |
openSNP | rs146017816 |
23andMe | rs146017816 |
SNPshot | rs146017816 |
SNPdbe | rs146017816 |
MSV3d | rs146017816 |
GWAS Ctlg | rs146017816 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs146017816(G;G) rs146017816(T;T) |
Alt | rs146017816(G;G) rs146017816(T;T) |
Reference | Rs146017816(C;C) |
Significance | Pathogenic |
Disease | Atrioventricular septal defect 4 Ventricular septal defect 1 |
Variation | info |
Gene | GATA4 |
CLNDBN | Atrioventricular septal defect 4 Ventricular septal defect 1 |
Reversed | 0 |
HGVS | NC_000008.10:g.11615980C>G; NC_000008.10:g.11615980C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000458303.1, RCV000023007.5, |