rs863223422
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;CTCAAGGAGACAATCGAAGACTGTT) | 6.2 | Pulmonary arterial hypertension |
(CTCAAGGAGACAATCGAAGACTGTT;CTCAAGGAGACAATCGAAGACTGTT) | 0 | common in clinvar |
Make rs863223422(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 202552728 |
Gene | BMPR2 |
is a | snp |
is | mentioned by |
dbSNP | rs863223422 |
dbSNP (classic) | rs863223422 |
ClinGen | rs863223422 |
ebi | rs863223422 |
HLI | rs863223422 |
Exac | rs863223422 |
Gnomad | rs863223422 |
Varsome | rs863223422 |
LitVar | rs863223422 |
Map | rs863223422 |
PheGenI | rs863223422 |
Biobank | rs863223422 |
1000 genomes | rs863223422 |
hgdp | rs863223422 |
ensembl | rs863223422 |
geneview | rs863223422 |
scholar | rs863223422 |
rs863223422 | |
pharmgkb | rs863223422 |
gwascentral | rs863223422 |
openSNP | rs863223422 |
23andMe | rs863223422 |
SNPshot | rs863223422 |
SNPdbe | rs863223422 |
MSV3d | rs863223422 |
GWAS Ctlg | rs863223422 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs863223422(-;-) |
Alt | rs863223422(-;-) |
Reference | Rs863223422(CTCAAGGAGACAATCGAAGACTGTT;CTCAAGGAGACAATCGAAGACTGTT) |
Significance | Pathogenic |
Disease | Primary pulmonary hypertension |
Variation | info |
Gene | BMPR2 |
CLNDBN | Primary pulmonary hypertension |
Reversed | 0 |
HGVS | NC_000002.11:g.203417451_203417475del25 |
CLNSRC | |
CLNACC | RCV000488818.1, |