rs886039223
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;AT) | 6.2 | Pulmonary arterial hypertension |
Make rs886039223(AT;AT) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 202464907 |
Gene | BMPR2 |
is a | snp |
is | mentioned by |
dbSNP | rs886039223 |
dbSNP (classic) | rs886039223 |
ClinGen | rs886039223 |
ebi | rs886039223 |
HLI | rs886039223 |
Exac | rs886039223 |
Gnomad | rs886039223 |
Varsome | rs886039223 |
LitVar | rs886039223 |
Map | rs886039223 |
PheGenI | rs886039223 |
Biobank | rs886039223 |
1000 genomes | rs886039223 |
hgdp | rs886039223 |
ensembl | rs886039223 |
geneview | rs886039223 |
scholar | rs886039223 |
rs886039223 | |
pharmgkb | rs886039223 |
gwascentral | rs886039223 |
openSNP | rs886039223 |
23andMe | rs886039223 |
SNPshot | rs886039223 |
SNPdbe | rs886039223 |
MSV3d | rs886039223 |
GWAS Ctlg | rs886039223 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs886039223(AT;AT) |
Alt | rs886039223(AT;AT) |
Reference | Rs886039223(-;-) |
Significance | Pathogenic |
Disease | Primary pulmonary hypertension |
Variation | info |
Gene | BMPR2 |
CLNDBN | Primary pulmonary hypertension |
Reversed | 0 |
HGVS | NC_000002.11:g.203329629_203329630dupAT |
CLNSRC | |
CLNACC | RCV000247659.1, |