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, | 
