rs587782928
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs587782928(A;G) |
Make rs587782928(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 173233083 |
Gene | NKX2-5 |
is a | snp |
is | mentioned by |
dbSNP | rs587782928 |
dbSNP (classic) | rs587782928 |
ClinGen | rs587782928 |
ebi | rs587782928 |
HLI | rs587782928 |
Exac | rs587782928 |
Gnomad | rs587782928 |
Varsome | rs587782928 |
LitVar | rs587782928 |
Map | rs587782928 |
PheGenI | rs587782928 |
Biobank | rs587782928 |
1000 genomes | rs587782928 |
hgdp | rs587782928 |
ensembl | rs587782928 |
geneview | rs587782928 |
scholar | rs587782928 |
rs587782928 | |
pharmgkb | rs587782928 |
gwascentral | rs587782928 |
openSNP | rs587782928 |
23andMe | rs587782928 |
SNPshot | rs587782928 |
SNPdbe | rs587782928 |
MSV3d | rs587782928 |
GWAS Ctlg | rs587782928 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587782928(G;G) |
Alt | rs587782928(G;G) |
Reference | Rs587782928(A;A) |
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.172660086T>C |
CLNSRC | |
CLNACC | RCV000144176.1, |