rs137852749
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6.2 | Pulmonary arterial hypertension |
| (G;G) | 0 | common in clinvar |
| Make rs137852749(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 202552774 |
| Gene | BMPR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137852749 |
| dbSNP (classic) | rs137852749 |
| ClinGen | rs137852749 |
| ebi | rs137852749 |
| HLI | rs137852749 |
| Exac | rs137852749 |
| Gnomad | rs137852749 |
| Varsome | rs137852749 |
| LitVar | rs137852749 |
| Map | rs137852749 |
| PheGenI | rs137852749 |
| Biobank | rs137852749 |
| 1000 genomes | rs137852749 |
| hgdp | rs137852749 |
| ensembl | rs137852749 |
| geneview | rs137852749 |
| scholar | rs137852749 |
| rs137852749 | |
| pharmgkb | rs137852749 |
| gwascentral | rs137852749 |
| openSNP | rs137852749 |
| 23andMe | rs137852749 |
| SNPshot | rs137852749 |
| SNPdbe | rs137852749 |
| MSV3d | rs137852749 |
| GWAS Ctlg | rs137852749 |
| Max Magnitude | 6.2 |
aka c.1472G>A (p.Arg491Gln)
Known to have reduced penetrance; a 2019 article suggests that as-yet-unidentified variants in a nearby gene, FIGN, may be needed to bring about pulmonary arterial hypertension.[PMID 30894412]
23andMe name: i5005635
| ClinVar | |
|---|---|
| Risk | rs137852749(A;A) |
| Alt | rs137852749(A;A) |
| Reference | Rs137852749(G;G) |
| Significance | Pathogenic |
| Disease | Primary pulmonary hypertension |
| Variation | info |
| Gene | BMPR2 |
| CLNDBN | Primary pulmonary hypertension |
| Reversed | 0 |
| HGVS | NC_000002.11:g.203417497G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009351.4, |
