rs1061157
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1061157(A;A) |
| Make rs1061157(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 202556476 |
| Gene | BMPR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1061157 |
| dbSNP (classic) | rs1061157 |
| ClinGen | rs1061157 |
| ebi | rs1061157 |
| HLI | rs1061157 |
| Exac | rs1061157 |
| Gnomad | rs1061157 |
| Varsome | rs1061157 |
| LitVar | rs1061157 |
| Map | rs1061157 |
| PheGenI | rs1061157 |
| Biobank | rs1061157 |
| 1000 genomes | rs1061157 |
| hgdp | rs1061157 |
| ensembl | rs1061157 |
| geneview | rs1061157 |
| scholar | rs1061157 |
| rs1061157 | |
| pharmgkb | rs1061157 |
| gwascentral | rs1061157 |
| openSNP | rs1061157 |
| 23andMe | rs1061157 |
| SNPshot | rs1061157 |
| SNPdbe | rs1061157 |
| MSV3d | rs1061157 |
| GWAS Ctlg | rs1061157 |
| GMAF | 0.0877 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 23098893] 5'UTR Repeat Polymorphisms of the BMPR2 gene in Children with Pulmonary Hypertension associated with Congenital Heart Disease
[PMID 21311592
] Genetic and evolutionary analyses of the human bone morphogenetic protein receptor 2 (BMPR2) in the pathophysiology of obesity.
| ClinVar | |
|---|---|
| Risk | rs1061157(A;A) |
| Alt | rs1061157(A;A) |
| Reference | Rs1061157(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified Primary pulmonary hypertension |
| Variation | info |
| Gene | BMPR2 |
| CLNDBN | not specified Primary pulmonary hypertension |
| Reversed | 0 |
| HGVS | NC_000002.11:g.203421199G>A |
| CLNSRC | ClinVar GeneDx |
| CLNACC | RCV000150194.4, RCV000281956.1, |
