rs878854272
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;CGAGGTGAGTGTATACAAAA) | 6.2 | Pulmonary arterial hypertension |
(CGAGGTGAGTGTATACAAAA;CGAGGTGAGTGTATACAAAA) | 0 | common in clinvar |
Make rs878854272(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 202530951 |
Gene | BMPR2 |
is a | snp |
is | mentioned by |
dbSNP | rs878854272 |
dbSNP (classic) | rs878854272 |
ClinGen | rs878854272 |
ebi | rs878854272 |
HLI | rs878854272 |
Exac | rs878854272 |
Gnomad | rs878854272 |
Varsome | rs878854272 |
LitVar | rs878854272 |
Map | rs878854272 |
PheGenI | rs878854272 |
Biobank | rs878854272 |
1000 genomes | rs878854272 |
hgdp | rs878854272 |
ensembl | rs878854272 |
geneview | rs878854272 |
scholar | rs878854272 |
rs878854272 | |
pharmgkb | rs878854272 |
gwascentral | rs878854272 |
openSNP | rs878854272 |
23andMe | rs878854272 |
SNPshot | rs878854272 |
SNPdbe | rs878854272 |
MSV3d | rs878854272 |
GWAS Ctlg | rs878854272 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs878854272(-;-) |
Alt | rs878854272(-;-) |
Reference | Rs878854272(CGAGGTGAGTGTATACAAAA;CGAGGTGAGTGTATACAAAA) |
Significance | Pathogenic |
Disease | Primary pulmonary hypertension |
Variation | info |
Gene | BMPR2 |
CLNDBN | Primary pulmonary hypertension |
Reversed | 0 |
HGVS | NC_000002.11:g.203395674_203395693del20 |
CLNSRC | |
CLNACC | RCV000226914.1, |