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, |
