rs483352902
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 6.2 | Pulmonary arterial hypertension |
(C;C) | 0 | common in clinvar |
Make rs483352902(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 202377518 |
Gene | BMPR2 |
is a | snp |
is | mentioned by |
dbSNP | rs483352902 |
dbSNP (classic) | rs483352902 |
ClinGen | rs483352902 |
ebi | rs483352902 |
HLI | rs483352902 |
Exac | rs483352902 |
Gnomad | rs483352902 |
Varsome | rs483352902 |
LitVar | rs483352902 |
Map | rs483352902 |
PheGenI | rs483352902 |
Biobank | rs483352902 |
1000 genomes | rs483352902 |
hgdp | rs483352902 |
ensembl | rs483352902 |
geneview | rs483352902 |
scholar | rs483352902 |
rs483352902 | |
pharmgkb | rs483352902 |
gwascentral | rs483352902 |
openSNP | rs483352902 |
23andMe | rs483352902 |
SNPshot | rs483352902 |
SNPdbe | rs483352902 |
MSV3d | rs483352902 |
GWAS Ctlg | rs483352902 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs483352902(-;-) |
Alt | rs483352902(-;-) |
Reference | Rs483352902(C;C) |
Significance | Pathogenic |
Disease | Primary pulmonary hypertension Pulmonary venoocclusive disease 1 |
Variation | info |
Gene | BMPR2 |
CLNDBN | Primary pulmonary hypertension Pulmonary venoocclusive disease 1 |
Reversed | 0 |
HGVS | NC_000002.11:g.203242241delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009360.4, RCV000083304.3, |