rs3729753
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs3729753(C;C) |
| Make rs3729753(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 173232938 |
| Gene | NKX2-5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3729753 |
| dbSNP (classic) | rs3729753 |
| ClinGen | rs3729753 |
| ebi | rs3729753 |
| HLI | rs3729753 |
| Exac | rs3729753 |
| Gnomad | rs3729753 |
| Varsome | rs3729753 |
| LitVar | rs3729753 |
| Map | rs3729753 |
| PheGenI | rs3729753 |
| Biobank | rs3729753 |
| 1000 genomes | rs3729753 |
| hgdp | rs3729753 |
| ensembl | rs3729753 |
| geneview | rs3729753 |
| scholar | rs3729753 |
| rs3729753 | |
| pharmgkb | rs3729753 |
| gwascentral | rs3729753 |
| openSNP | rs3729753 |
| 23andMe | rs3729753 |
| SNPshot | rs3729753 |
| SNPdbe | rs3729753 |
| MSV3d | rs3729753 |
| GWAS Ctlg | rs3729753 |
| GMAF | 0.02066 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 19371212] Screening NKX2.5 mutation in a sample of 230 Han Chinese children with congenital heart diseases
| ClinVar | |
|---|---|
| Risk | rs3729753(C;C) |
| Alt | rs3729753(C;C) |
| Reference | Rs3729753(G;G) |
| Significance | Other |
| Disease | not specified Atrial septal defect 7 with or without atrioventricular conduction defects |
| Variation | info |
| Gene | NKX2-5 |
| CLNDBN | not specified Atrial septal defect 7 with or without atrioventricular conduction defects |
| Reversed | 1 |
| HGVS | NC_000005.9:g.172659941C>G |
| CLNSRC | ClinVar University of Chicago |
| CLNACC | RCV000146754.5, RCV000471215.1, |
[PMID 26297999] Genetic variations of NKX2-5 in sporadic atrial septal defect and ventricular septal defect in Chinese Yunnan population
