rs115604088
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs115604088(A;A) |
| Make rs115604088(A;G) |
| Make rs115604088(G;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 2 |
| Position | 202376806 |
| Gene | BMPR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs115604088 |
| dbSNP (classic) | rs115604088 |
| ClinGen | rs115604088 |
| ebi | rs115604088 |
| HLI | rs115604088 |
| Exac | rs115604088 |
| Gnomad | rs115604088 |
| Varsome | rs115604088 |
| LitVar | rs115604088 |
| Map | rs115604088 |
| PheGenI | rs115604088 |
| Biobank | rs115604088 |
| 1000 genomes | rs115604088 |
| hgdp | rs115604088 |
| ensembl | rs115604088 |
| geneview | rs115604088 |
| scholar | rs115604088 |
| rs115604088 | |
| pharmgkb | rs115604088 |
| gwascentral | rs115604088 |
| openSNP | rs115604088 |
| 23andMe | rs115604088 |
| SNPshot | rs115604088 |
| SNPdbe | rs115604088 |
| MSV3d | rs115604088 |
| GWAS Ctlg | rs115604088 |
| Max Magnitude | 0 |
[PMID 27569544
] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
| ClinVar | |
|---|---|
| Risk | rs115604088(A;A) |
| Alt | rs115604088(A;A) |
| Reference | rs115604088(G;G) |
| Significance | Other |
| Disease | Primary pulmonary hypertension |
| Variation | info |
| Gene | BMPR2 |
| CLNDBN | Primary pulmonary hypertension |
| Reversed | 0 |
| HGVS | NC_000002.11:g.203241529G>A |
| CLNSRC | Illumina |
| CLNACC | RCV000383967.1, |
