rs886039673
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6.2 | Pulmonary arterial hypertension |
Make rs886039673(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 202555454 |
Gene | BMPR2 |
is a | snp |
is | mentioned by |
dbSNP | rs886039673 |
dbSNP (classic) | rs886039673 |
ClinGen | rs886039673 |
ebi | rs886039673 |
HLI | rs886039673 |
Exac | rs886039673 |
Gnomad | rs886039673 |
Varsome | rs886039673 |
LitVar | rs886039673 |
Map | rs886039673 |
PheGenI | rs886039673 |
Biobank | rs886039673 |
1000 genomes | rs886039673 |
hgdp | rs886039673 |
ensembl | rs886039673 |
geneview | rs886039673 |
scholar | rs886039673 |
rs886039673 | |
pharmgkb | rs886039673 |
gwascentral | rs886039673 |
openSNP | rs886039673 |
23andMe | rs886039673 |
SNPshot | rs886039673 |
SNPdbe | rs886039673 |
MSV3d | rs886039673 |
GWAS Ctlg | rs886039673 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs886039673(T;T) |
Alt | rs886039673(T;T) |
Reference | Rs886039673(C;C) |
Significance | Pathogenic |
Disease | not provided Primary pulmonary hypertension |
Variation | info |
Gene | BMPR2 |
CLNDBN | not provided Primary pulmonary hypertension |
Reversed | 0 |
HGVS | NC_000002.11:g.203420177C>T |
CLNSRC | |
CLNACC | RCV000254789.1, RCV000488851.1, |