rs1085307178
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 6.2 | Pulmonary arterial hypertension |
Chromosome | 2 |
Position | 202464932 |
Gene | BMPR2 |
is a | snp |
is | mentioned by |
dbSNP | rs1085307178 |
dbSNP (classic) | rs1085307178 |
ClinGen | rs1085307178 |
ebi | rs1085307178 |
HLI | rs1085307178 |
Exac | rs1085307178 |
Gnomad | rs1085307178 |
Varsome | rs1085307178 |
LitVar | rs1085307178 |
Map | rs1085307178 |
PheGenI | rs1085307178 |
Biobank | rs1085307178 |
1000 genomes | rs1085307178 |
hgdp | rs1085307178 |
ensembl | rs1085307178 |
geneview | rs1085307178 |
scholar | rs1085307178 |
rs1085307178 | |
pharmgkb | rs1085307178 |
gwascentral | rs1085307178 |
openSNP | rs1085307178 |
23andMe | rs1085307178 |
SNPshot | rs1085307178 |
SNPdbe | rs1085307178 |
MSV3d | rs1085307178 |
GWAS Ctlg | rs1085307178 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs1085307178(A;A) |
Alt | rs1085307178(A;A) |
Reference | Rs1085307178(-;-) |
Significance | Pathogenic |
Disease | Primary pulmonary hypertension |
Variation | info |
Gene | BMPR2 |
CLNDBN | Primary pulmonary hypertension |
Reversed | 0 |
HGVS | NC_000002.11:g.203329655dup |
CLNSRC | |
CLNACC | RCV000488827.1, |