rs703752
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs703752(A;A) |
Make rs703752(A;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 173232508 |
Gene | NKX2-5 |
is a | snp |
is | mentioned by |
dbSNP | rs703752 |
dbSNP (classic) | rs703752 |
ClinGen | rs703752 |
ebi | rs703752 |
HLI | rs703752 |
Exac | rs703752 |
Gnomad | rs703752 |
Varsome | rs703752 |
LitVar | rs703752 |
Map | rs703752 |
PheGenI | rs703752 |
Biobank | rs703752 |
1000 genomes | rs703752 |
hgdp | rs703752 |
ensembl | rs703752 |
geneview | rs703752 |
scholar | rs703752 |
rs703752 | |
pharmgkb | rs703752 |
gwascentral | rs703752 |
openSNP | rs703752 |
23andMe | rs703752 |
SNPshot | rs703752 |
SNPdbe | rs703752 |
MSV3d | rs703752 |
GWAS Ctlg | rs703752 |
Max Magnitude | 0 |
? | (A;A) (A;C) (C;C) | 28 |
---|---|---|
|
[PMID 26297999] Genetic variations of NKX2-5 in sporadic atrial septal defect and ventricular septal defect in Chinese Yunnan population
ClinVar | |
---|---|
Risk | rs703752(A;A) rs703752(G;G) |
Alt | rs703752(A;A) rs703752(G;G) |
Reference | Rs703752(C;C) |
Significance | Non-pathogenic |
Disease | not specified |
Variation | info |
Gene | NKX2-5 |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_000005.9:g.172659511C>A |
CLNSRC | |
CLNACC | RCV000192692.1, |