rs1085307267
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.2 | Pulmonary arterial hypertension |
(C;G) | 6.2 | Pulmonary arterial hypertension |
(G;G) | 0 | common in clinvar |
Chromosome | 2 |
Position | 202520086 |
Gene | BMPR2 |
is a | snp |
is | mentioned by |
dbSNP | rs1085307267 |
dbSNP (classic) | rs1085307267 |
ClinGen | rs1085307267 |
ebi | rs1085307267 |
HLI | rs1085307267 |
Exac | rs1085307267 |
Gnomad | rs1085307267 |
Varsome | rs1085307267 |
LitVar | rs1085307267 |
Map | rs1085307267 |
PheGenI | rs1085307267 |
Biobank | rs1085307267 |
1000 genomes | rs1085307267 |
hgdp | rs1085307267 |
ensembl | rs1085307267 |
geneview | rs1085307267 |
scholar | rs1085307267 |
rs1085307267 | |
pharmgkb | rs1085307267 |
gwascentral | rs1085307267 |
openSNP | rs1085307267 |
23andMe | rs1085307267 |
SNPshot | rs1085307267 |
SNPdbe | rs1085307267 |
MSV3d | rs1085307267 |
GWAS Ctlg | rs1085307267 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs1085307267(C;C) |
Alt | rs1085307267(C;C) |
Reference | Rs1085307267(G;G) |
Significance | Pathogenic |
Disease | Primary pulmonary hypertension |
Variation | info |
Gene | BMPR2 |
CLNDBN | Primary pulmonary hypertension |
Reversed | 0 |
HGVS | NC_000002.11:g.203384809G>A; NC_000002.11:g.203384809G>C |
CLNSRC | |
CLNACC | RCV000488671.1, RCV000488850.1, |