rs115099192
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs115099192(A;A) |
Make rs115099192(A;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 8 |
Position | 11758366 |
Gene | GATA4 |
is a | snp |
is | mentioned by |
dbSNP | rs115099192 |
dbSNP (classic) | rs115099192 |
ClinGen | rs115099192 |
ebi | rs115099192 |
HLI | rs115099192 |
Exac | rs115099192 |
Gnomad | rs115099192 |
Varsome | rs115099192 |
LitVar | rs115099192 |
Map | rs115099192 |
PheGenI | rs115099192 |
Biobank | rs115099192 |
1000 genomes | rs115099192 |
hgdp | rs115099192 |
ensembl | rs115099192 |
geneview | rs115099192 |
scholar | rs115099192 |
rs115099192 | |
pharmgkb | rs115099192 |
gwascentral | rs115099192 |
openSNP | rs115099192 |
23andMe | rs115099192 |
SNPshot | rs115099192 |
SNPdbe | rs115099192 |
MSV3d | rs115099192 |
GWAS Ctlg | rs115099192 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs115099192(A;A) rs115099192(G;G) |
Alt | rs115099192(A;A) rs115099192(G;G) |
Reference | Rs115099192(C;C) |
Significance | Pathogenic |
Disease | Tetralogy of Fallot Ventricular septal defect 1 Atrial septal defect 2 Atrioventricular septal defect 4 |
Variation | info |
Gene | GATA4 |
CLNDBN | Tetralogy of Fallot Ventricular septal defect 1 Atrial septal defect 2 Atrioventricular septal defect 4 |
Reversed | 0 |
HGVS | NC_000008.10:g.11615875C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023008.3, RCV000030949.3, RCV000490358.1, |