rs142896669
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs142896669(C;T) |
| Make rs142896669(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 9 |
| Position | 127818173 |
| Gene | ENG, LOC102723566 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs142896669 |
| dbSNP (classic) | rs142896669 |
| ClinGen | rs142896669 |
| ebi | rs142896669 |
| HLI | rs142896669 |
| Exac | rs142896669 |
| Gnomad | rs142896669 |
| Varsome | rs142896669 |
| LitVar | rs142896669 |
| Map | rs142896669 |
| PheGenI | rs142896669 |
| Biobank | rs142896669 |
| 1000 genomes | rs142896669 |
| hgdp | rs142896669 |
| ensembl | rs142896669 |
| geneview | rs142896669 |
| scholar | rs142896669 |
| rs142896669 | |
| pharmgkb | rs142896669 |
| gwascentral | rs142896669 |
| openSNP | rs142896669 |
| 23andMe | rs142896669 |
| SNPshot | rs142896669 |
| SNPdbe | rs142896669 |
| MSV3d | rs142896669 |
| GWAS Ctlg | rs142896669 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs142896669(T;T) |
| Alt | rs142896669(T;T) |
| Reference | Rs142896669(C;C) |
| Significance | Pathogenic |
| Disease | Osler hemorrhagic telangiectasia syndrome not specified Primary pulmonary hypertension |
| Variation | info |
| Gene | ENG LOC102723566 |
| CLNDBN | Osler hemorrhagic telangiectasia syndrome not specified Primary pulmonary hypertension |
| Reversed | 0 |
| HGVS | NC_000009.11:g.130580452C>T |
| CLNSRC | |
| CLNACC | RCV000226902.2, RCV000454429.1, RCV000488732.1, |
