rs121909289
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;G) | 4.3 | Hereditary hemorrhagic telangiectasia |
| (G;G) | 0 | common in clinvar |
| (G;T) | 4.3 | Hereditary hemorrhagic telangiectasia |
| Make rs121909289(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 51916183 |
| Gene | ACVRL1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121909289 |
| dbSNP (classic) | rs121909289 |
| ClinGen | rs121909289 |
| ebi | rs121909289 |
| HLI | rs121909289 |
| Exac | rs121909289 |
| Gnomad | rs121909289 |
| Varsome | rs121909289 |
| LitVar | rs121909289 |
| Map | rs121909289 |
| PheGenI | rs121909289 |
| Biobank | rs121909289 |
| 1000 genomes | rs121909289 |
| hgdp | rs121909289 |
| ensembl | rs121909289 |
| geneview | rs121909289 |
| scholar | rs121909289 |
| rs121909289 | |
| pharmgkb | rs121909289 |
| gwascentral | rs121909289 |
| openSNP | rs121909289 |
| 23andMe | rs121909289 |
| SNPshot | rs121909289 |
| SNPdbe | rs121909289 |
| MSV3d | rs121909289 |
| GWAS Ctlg | rs121909289 |
| Merged from | Rs28936402 |
| Max Magnitude | 4.3 |
| ClinVar | |
|---|---|
| Risk | rs121909289(C;C) rs121909289(T;T) |
| Alt | rs121909289(C;C) rs121909289(T;T) |
| Reference | Rs121909289(G;G) |
| Significance | Pathogenic |
| Disease | Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia |
| Variation | info |
| Gene | ACVRL1 |
| CLNDBN | Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia |
| Reversed | 0 |
| HGVS | NC_000012.11:g.52309967G>C; NC_000012.11:g.52309967G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008744.3, RCV000488470.1, |
