rs398122402
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398122402(A;A) |
Make rs398122402(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 11748963 |
Gene | GATA4 |
is a | snp |
is | mentioned by |
dbSNP | rs398122402 |
dbSNP (classic) | rs398122402 |
ClinGen | rs398122402 |
ebi | rs398122402 |
HLI | rs398122402 |
Exac | rs398122402 |
Gnomad | rs398122402 |
Varsome | rs398122402 |
LitVar | rs398122402 |
Map | rs398122402 |
PheGenI | rs398122402 |
Biobank | rs398122402 |
1000 genomes | rs398122402 |
hgdp | rs398122402 |
ensembl | rs398122402 |
geneview | rs398122402 |
scholar | rs398122402 |
rs398122402 | |
pharmgkb | rs398122402 |
gwascentral | rs398122402 |
openSNP | rs398122402 |
23andMe | rs398122402 |
SNPshot | rs398122402 |
SNPdbe | rs398122402 |
MSV3d | rs398122402 |
GWAS Ctlg | rs398122402 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122402(A;A) |
Alt | rs398122402(A;A) |
Reference | Rs398122402(G;G) |
Significance | Pathogenic |
Disease | Testicular anomalies with or without congenital heart disease |
Variation | info |
Gene | GATA4 |
CLNDBN | Testicular anomalies with or without congenital heart disease |
Reversed | 0 |
HGVS | NC_000008.10:g.11606472G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000074426.9, |