rs1085307192
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AC;TATAGG) | 6.2 | Pulmonary arterial hypertension |
(TATAGG;TATAGG) | 0 | common in clinvar |
Chromosome | 2 |
Position | 202467514 |
Gene | BMPR2 |
is a | snp |
is | mentioned by |
dbSNP | rs1085307192 |
dbSNP (classic) | rs1085307192 |
ClinGen | rs1085307192 |
ebi | rs1085307192 |
HLI | rs1085307192 |
Exac | rs1085307192 |
Gnomad | rs1085307192 |
Varsome | rs1085307192 |
LitVar | rs1085307192 |
Map | rs1085307192 |
PheGenI | rs1085307192 |
Biobank | rs1085307192 |
1000 genomes | rs1085307192 |
hgdp | rs1085307192 |
ensembl | rs1085307192 |
geneview | rs1085307192 |
scholar | rs1085307192 |
rs1085307192 | |
pharmgkb | rs1085307192 |
gwascentral | rs1085307192 |
openSNP | rs1085307192 |
23andMe | rs1085307192 |
SNPshot | rs1085307192 |
SNPdbe | rs1085307192 |
MSV3d | rs1085307192 |
GWAS Ctlg | rs1085307192 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs1085307192(AC;AC) |
Alt | rs1085307192(AC;AC) |
Reference | Rs1085307192(TATAGG;TATAGG) |
Significance | Pathogenic |
Disease | Primary pulmonary hypertension |
Variation | info |
Gene | BMPR2 |
CLNDBN | Primary pulmonary hypertension |
Reversed | 0 |
HGVS | NC_000002.11:g.203332237_203332242delTATAGGinsAC |
CLNSRC | |
CLNACC | RCV000488543.1, |