rs201442000
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs201442000(C;C) |
Make rs201442000(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 173235019 |
Gene | NKX2-5 |
is a | snp |
is | mentioned by |
dbSNP | rs201442000 |
dbSNP (classic) | rs201442000 |
ClinGen | rs201442000 |
ebi | rs201442000 |
HLI | rs201442000 |
Exac | rs201442000 |
Gnomad | rs201442000 |
Varsome | rs201442000 |
LitVar | rs201442000 |
Map | rs201442000 |
PheGenI | rs201442000 |
Biobank | rs201442000 |
1000 genomes | rs201442000 |
hgdp | rs201442000 |
ensembl | rs201442000 |
geneview | rs201442000 |
scholar | rs201442000 |
rs201442000 | |
pharmgkb | rs201442000 |
gwascentral | rs201442000 |
openSNP | rs201442000 |
23andMe | rs201442000 |
SNPshot | rs201442000 |
SNPdbe | rs201442000 |
MSV3d | rs201442000 |
GWAS Ctlg | rs201442000 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201442000(C;C) rs201442000(G;G) |
Alt | rs201442000(C;C) rs201442000(G;G) |
Reference | Rs201442000(T;T) |
Significance | Probable-Pathogenic |
Disease | not specified Abnormality of cardiovascular system morphology Atrial septal defect 7 with or without atrioventricular conduction defects |
Variation | info |
Gene | NKX2-5 |
CLNDBN | not specified Abnormality of cardiovascular system morphology Atrial septal defect 7 with or without atrioventricular conduction defects |
Reversed | 0 |
HGVS | NC_000005.9:g.172662022T>C |
CLNSRC | |
CLNACC | RCV000171017.3, RCV000193266.1, RCV000477570.1, |