rs1085307254
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Chromosome | 2 |
Position | 202518927 |
Gene | BMPR2 |
is a | snp |
is | mentioned by |
dbSNP | rs1085307254 |
dbSNP (old) | rs1085307254 |
ClinGen | rs1085307254 |
ebi | rs1085307254 |
HLI | rs1085307254 |
Exac | rs1085307254 |
Gnomad | rs1085307254 |
Varsome | rs1085307254 |
Map | rs1085307254 |
PheGenI | rs1085307254 |
Biobank | rs1085307254 |
1000 genomes | rs1085307254 |
hgdp | rs1085307254 |
ensembl | rs1085307254 |
gopubmed | rs1085307254 |
geneview | rs1085307254 |
scholar | rs1085307254 |
rs1085307254 | |
pharmgkb | rs1085307254 |
gwascentral | rs1085307254 |
openSNP | rs1085307254 |
23andMe | rs1085307254 |
23andMe all | rs1085307254 |
SNPshot | rs1085307254 |
SNPdbe | rs1085307254 |
MSV3d | rs1085307254 |
GWAS Ctlg | rs1085307254 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1085307254(T;T) |
Alt | rs1085307254(T;T) |
Reference | Rs1085307254(G;G) |
Significance | Pathogenic |
Disease | Primary pulmonary hypertension |
Variation | info |
Gene | BMPR2 |
CLNDBN | Primary pulmonary hypertension |
Reversed | 0 |
HGVS | NC_000002.11:g.203383650G>A; NC_000002.11:g.203383650G>C; NC_000002.11:g.203383650G>T |
CLNSRC | |
CLNACC | RCV000488589.1, RCV000488725.1, RCV000488845.1, |