rs1085307189
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;GCAAGTG) | 6.2 | Pulmonary arterial hypertension |
(GCAAGTG;GCAAGTG) | 0 | common/normal |
(GGCAAGT;GGCAAGT) | 0 | common in clinvar |
Chromosome | 2 |
Position | 202464980 |
Gene | BMPR2 |
is a | snp |
is | mentioned by |
dbSNP | rs1085307189 |
dbSNP (classic) | rs1085307189 |
ClinGen | rs1085307189 |
ebi | rs1085307189 |
HLI | rs1085307189 |
Exac | rs1085307189 |
Gnomad | rs1085307189 |
Varsome | rs1085307189 |
LitVar | rs1085307189 |
Map | rs1085307189 |
PheGenI | rs1085307189 |
Biobank | rs1085307189 |
1000 genomes | rs1085307189 |
hgdp | rs1085307189 |
ensembl | rs1085307189 |
geneview | rs1085307189 |
scholar | rs1085307189 |
rs1085307189 | |
pharmgkb | rs1085307189 |
gwascentral | rs1085307189 |
openSNP | rs1085307189 |
23andMe | rs1085307189 |
SNPshot | rs1085307189 |
SNPdbe | rs1085307189 |
MSV3d | rs1085307189 |
GWAS Ctlg | rs1085307189 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs1085307189(-;-) |
Alt | rs1085307189(-;-) |
Reference | Rs1085307189(GGCAAGT;GGCAAGT) |
Significance | Pathogenic |
Disease | Primary pulmonary hypertension |
Variation | info |
Gene | BMPR2 |
CLNDBN | Primary pulmonary hypertension |
Reversed | 0 |
HGVS | NC_000002.11:g.203329703_203329709delGCAAGTG |
CLNSRC | |
CLNACC | RCV000488766.1, |