rs754714105
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs754714105(C;T) |
| Make rs754714105(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 16 |
| Position | 2326201 |
| Gene | ABCA3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs754714105 |
| dbSNP (classic) | rs754714105 |
| ClinGen | rs754714105 |
| ebi | rs754714105 |
| HLI | rs754714105 |
| Exac | rs754714105 |
| Gnomad | rs754714105 |
| Varsome | rs754714105 |
| LitVar | rs754714105 |
| Map | rs754714105 |
| PheGenI | rs754714105 |
| Biobank | rs754714105 |
| 1000 genomes | rs754714105 |
| hgdp | rs754714105 |
| ensembl | rs754714105 |
| geneview | rs754714105 |
| scholar | rs754714105 |
| rs754714105 | |
| pharmgkb | rs754714105 |
| gwascentral | rs754714105 |
| openSNP | rs754714105 |
| 23andMe | rs754714105 |
| SNPshot | rs754714105 |
| SNPdbe | rs754714105 |
| MSV3d | rs754714105 |
| GWAS Ctlg | rs754714105 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs754714105(T;T) |
| Alt | rs754714105(T;T) |
| Reference | Rs754714105(C;C) |
| Significance | Pathogenic |
| Disease | Pulmonary Surfactant Metabolism Dysfunction |
| Variation | info |
| Gene | ABCA3 |
| CLNDBN | Pulmonary Surfactant Metabolism Dysfunction |
| Reversed | 0 |
| HGVS | NC_000016.9:g.2376202C>T |
| CLNSRC | |
| CLNACC | RCV000221771.1, |
