rs368489876
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs368489876(A;A) |
Make rs368489876(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 11757012 |
Gene | GATA4 |
is a | snp |
is | mentioned by |
dbSNP | rs368489876 |
dbSNP (classic) | rs368489876 |
ClinGen | rs368489876 |
ebi | rs368489876 |
HLI | rs368489876 |
Exac | rs368489876 |
Gnomad | rs368489876 |
Varsome | rs368489876 |
LitVar | rs368489876 |
Map | rs368489876 |
PheGenI | rs368489876 |
Biobank | rs368489876 |
1000 genomes | rs368489876 |
hgdp | rs368489876 |
ensembl | rs368489876 |
geneview | rs368489876 |
scholar | rs368489876 |
rs368489876 | |
pharmgkb | rs368489876 |
gwascentral | rs368489876 |
openSNP | rs368489876 |
23andMe | rs368489876 |
SNPshot | rs368489876 |
SNPdbe | rs368489876 |
MSV3d | rs368489876 |
GWAS Ctlg | rs368489876 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs368489876(A;A) |
Alt | rs368489876(A;A) |
Reference | Rs368489876(G;G) |
Significance | Pathogenic |
Disease | Ventricular septal defect 1 |
Variation | info |
Gene | GATA4 |
CLNDBN | Ventricular septal defect 1 |
Reversed | 0 |
HGVS | NC_000008.10:g.11614521G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023006.5, |