rs2277923
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs2277923(A;G) |
| Make rs2277923(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 5 |
| Position | 173235021 |
| Gene | NKX2-5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2277923 |
| dbSNP (classic) | rs2277923 |
| ClinGen | rs2277923 |
| ebi | rs2277923 |
| HLI | rs2277923 |
| Exac | rs2277923 |
| Gnomad | rs2277923 |
| Varsome | rs2277923 |
| LitVar | rs2277923 |
| Map | rs2277923 |
| PheGenI | rs2277923 |
| Biobank | rs2277923 |
| 1000 genomes | rs2277923 |
| hgdp | rs2277923 |
| ensembl | rs2277923 |
| geneview | rs2277923 |
| scholar | rs2277923 |
| rs2277923 | |
| pharmgkb | rs2277923 |
| gwascentral | rs2277923 |
| openSNP | rs2277923 |
| 23andMe | rs2277923 |
| SNPshot | rs2277923 |
| SNPdbe | rs2277923 |
| MSV3d | rs2277923 |
| GWAS Ctlg | rs2277923 |
| GMAF | 0.4885 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 19371212] Screening NKX2.5 mutation in a sample of 230 Han Chinese children with congenital heart diseases
[PMID 15161646
] Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations.
| ClinVar | |
|---|---|
| Risk | rs2277923(G;G) |
| Alt | rs2277923(G;G) |
| Reference | Rs2277923(A;A) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | NKX2-5 |
| CLNDBN | not specified |
| Reversed | 1 |
| HGVS | NC_000005.9:g.172662024T>C |
| CLNSRC | ClinVar Emory University GeneDx University of Chicago |
| CLNACC | RCV000037967.10, |
[PMID 26297999] Genetic variations of NKX2-5 in sporadic atrial septal defect and ventricular septal defect in Chinese Yunnan population
[PMID 26823822] Single nucleotide polymorphism of NKX2-5 gene with sporadic congenital heart disease in Chinese Bai population.
