rs1006246556
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.2 | Pulmonary arterial hypertension |
(G;G) | 0 | common in clinvar |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 202556253 |
Gene | BMPR2 |
is a | snp |
is | mentioned by |
dbSNP | rs1006246556 |
dbSNP (classic) | rs1006246556 |
ClinGen | rs1006246556 |
ebi | rs1006246556 |
HLI | rs1006246556 |
Exac | rs1006246556 |
Gnomad | rs1006246556 |
Varsome | rs1006246556 |
LitVar | rs1006246556 |
Map | rs1006246556 |
PheGenI | rs1006246556 |
Biobank | rs1006246556 |
1000 genomes | rs1006246556 |
hgdp | rs1006246556 |
ensembl | rs1006246556 |
geneview | rs1006246556 |
scholar | rs1006246556 |
rs1006246556 | |
pharmgkb | rs1006246556 |
gwascentral | rs1006246556 |
openSNP | rs1006246556 |
23andMe | rs1006246556 |
SNPshot | rs1006246556 |
SNPdbe | rs1006246556 |
MSV3d | rs1006246556 |
GWAS Ctlg | rs1006246556 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs1006246556(A;A) |
Alt | rs1006246556(A;A) |
Reference | Rs1006246556(G;G) |
Significance | Pathogenic |
Disease | Primary pulmonary hypertension |
Variation | info |
Gene | |
CLNDBN | Primary pulmonary hypertension |
Reversed | 0 |
HGVS | NC_000002.11:g.203420976G>A |
CLNSRC | |
CLNACC | RCV000488612.1, |