rs864321650
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs864321650(C;G) |
Make rs864321650(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 173234902 |
Gene | NKX2-5 |
is a | snp |
is | mentioned by |
dbSNP | rs864321650 |
dbSNP (classic) | rs864321650 |
ClinGen | rs864321650 |
ebi | rs864321650 |
HLI | rs864321650 |
Exac | rs864321650 |
Gnomad | rs864321650 |
Varsome | rs864321650 |
LitVar | rs864321650 |
Map | rs864321650 |
PheGenI | rs864321650 |
Biobank | rs864321650 |
1000 genomes | rs864321650 |
hgdp | rs864321650 |
ensembl | rs864321650 |
geneview | rs864321650 |
scholar | rs864321650 |
rs864321650 | |
pharmgkb | rs864321650 |
gwascentral | rs864321650 |
openSNP | rs864321650 |
23andMe | rs864321650 |
SNPshot | rs864321650 |
SNPdbe | rs864321650 |
MSV3d | rs864321650 |
GWAS Ctlg | rs864321650 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864321650(G;G) |
Alt | rs864321650(G;G) |
Reference | Rs864321650(C;C) |
Significance | Pathogenic |
Disease | Congenital heart disease |
Variation | info |
Gene | NKX2-5 |
CLNDBN | Congenital heart disease |
Reversed | 1 |
HGVS | NC_000005.9:g.172661905G>C |
CLNSRC | |
CLNACC | RCV000203543.1, |