rs864321648
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs864321648(A;A) |
Make rs864321648(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 173233153 |
Gene | NKX2-5 |
is a | snp |
is | mentioned by |
dbSNP | rs864321648 |
dbSNP (classic) | rs864321648 |
ClinGen | rs864321648 |
ebi | rs864321648 |
HLI | rs864321648 |
Exac | rs864321648 |
Gnomad | rs864321648 |
Varsome | rs864321648 |
LitVar | rs864321648 |
Map | rs864321648 |
PheGenI | rs864321648 |
Biobank | rs864321648 |
1000 genomes | rs864321648 |
hgdp | rs864321648 |
ensembl | rs864321648 |
geneview | rs864321648 |
scholar | rs864321648 |
rs864321648 | |
pharmgkb | rs864321648 |
gwascentral | rs864321648 |
openSNP | rs864321648 |
23andMe | rs864321648 |
SNPshot | rs864321648 |
SNPdbe | rs864321648 |
MSV3d | rs864321648 |
GWAS Ctlg | rs864321648 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864321648(A;A) |
Alt | rs864321648(A;A) |
Reference | Rs864321648(G;G) |
Significance | Pathogenic |
Disease | Congenital heart disease |
Variation | info |
Gene | NKX2-5 |
CLNDBN | Congenital heart disease |
Reversed | 1 |
HGVS | NC_000005.9:g.172660156C>T |
CLNSRC | |
CLNACC | RCV000203502.1, |