rs1085307167
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 6.2 | Pulmonary arterial hypertension |
| Chromosome | 2 |
| Position | 202464857 |
| Gene | BMPR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1085307167 |
| dbSNP (classic) | rs1085307167 |
| ClinGen | rs1085307167 |
| ebi | rs1085307167 |
| HLI | rs1085307167 |
| Exac | rs1085307167 |
| Gnomad | rs1085307167 |
| Varsome | rs1085307167 |
| LitVar | rs1085307167 |
| Map | rs1085307167 |
| PheGenI | rs1085307167 |
| Biobank | rs1085307167 |
| 1000 genomes | rs1085307167 |
| hgdp | rs1085307167 |
| ensembl | rs1085307167 |
| geneview | rs1085307167 |
| scholar | rs1085307167 |
| rs1085307167 | |
| pharmgkb | rs1085307167 |
| gwascentral | rs1085307167 |
| openSNP | rs1085307167 |
| 23andMe | rs1085307167 |
| SNPshot | rs1085307167 |
| SNPdbe | rs1085307167 |
| MSV3d | rs1085307167 |
| GWAS Ctlg | rs1085307167 |
| Max Magnitude | 6.2 |
| ClinVar | |
|---|---|
| Risk | rs1085307167(G;G) |
| Alt | rs1085307167(G;G) |
| Reference | Rs1085307167(A;A) |
| Significance | Pathogenic |
| Disease | Pulmonary arterial hypertension associated with congenital heart disease |
| Variation | info |
| Gene | BMPR2 |
| CLNDBN | Pulmonary arterial hypertension associated with congenital heart disease |
| Reversed | 0 |
| HGVS | NC_000002.11:g.203329580A>G |
| CLNSRC | |
| CLNACC | RCV000488460.1, |
