rs606231360
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs606231360(-;-) |
Make rs606231360(-;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 173234822 |
Gene | NKX2-5 |
is a | snp |
is | mentioned by |
dbSNP | rs606231360 |
dbSNP (classic) | rs606231360 |
ClinGen | rs606231360 |
ebi | rs606231360 |
HLI | rs606231360 |
Exac | rs606231360 |
Gnomad | rs606231360 |
Varsome | rs606231360 |
LitVar | rs606231360 |
Map | rs606231360 |
PheGenI | rs606231360 |
Biobank | rs606231360 |
1000 genomes | rs606231360 |
hgdp | rs606231360 |
ensembl | rs606231360 |
geneview | rs606231360 |
scholar | rs606231360 |
rs606231360 | |
pharmgkb | rs606231360 |
gwascentral | rs606231360 |
openSNP | rs606231360 |
23andMe | rs606231360 |
SNPshot | rs606231360 |
SNPdbe | rs606231360 |
MSV3d | rs606231360 |
GWAS Ctlg | rs606231360 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231360(-;-) |
Alt | rs606231360(-;-) |
Reference | Rs606231360(G;G) |
Significance | Pathogenic |
Disease | Atrial septal defect 7 with or without atrioventricular conduction defects |
Variation | info |
Gene | NKX2-5 |
CLNDBN | Atrial septal defect 7 with or without atrioventricular conduction defects |
Reversed | 1 |
HGVS | NC_000005.9:g.172661825delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009581.6, |