rs150932144
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs150932144(C;T) |
| Make rs150932144(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 127825744 |
| Gene | ENG, LOC105379841 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs150932144 |
| dbSNP (classic) | rs150932144 |
| ClinGen | rs150932144 |
| ebi | rs150932144 |
| HLI | rs150932144 |
| Exac | rs150932144 |
| Gnomad | rs150932144 |
| Varsome | rs150932144 |
| LitVar | rs150932144 |
| Map | rs150932144 |
| PheGenI | rs150932144 |
| Biobank | rs150932144 |
| 1000 genomes | rs150932144 |
| hgdp | rs150932144 |
| ensembl | rs150932144 |
| geneview | rs150932144 |
| scholar | rs150932144 |
| rs150932144 | |
| pharmgkb | rs150932144 |
| gwascentral | rs150932144 |
| openSNP | rs150932144 |
| 23andMe | rs150932144 |
| SNPshot | rs150932144 |
| SNPdbe | rs150932144 |
| MSV3d | rs150932144 |
| GWAS Ctlg | rs150932144 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs150932144(T;T) |
| Alt | rs150932144(T;T) |
| Reference | Rs150932144(C;C) |
| Significance | Pathogenic |
| Disease | Haemorrhagic telangiectasia 1 Osler hemorrhagic telangiectasia syndrome Primary pulmonary hypertension |
| Variation | info |
| Gene | ENG |
| CLNDBN | Haemorrhagic telangiectasia 1 Osler hemorrhagic telangiectasia syndrome Primary pulmonary hypertension |
| Reversed | 0 |
| HGVS | NC_000009.11:g.130588023C>T |
| CLNSRC | |
| CLNACC | RCV000148487.1, RCV000457880.1, RCV000488867.1, |
