rs1085307433
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Chromosome | 9 |
Position | 127818734 |
Gene | ENG, LOC102723566 |
is a | snp |
is | mentioned by |
dbSNP | rs1085307433 |
dbSNP (classic) | rs1085307433 |
ClinGen | rs1085307433 |
ebi | rs1085307433 |
HLI | rs1085307433 |
Exac | rs1085307433 |
Gnomad | rs1085307433 |
Varsome | rs1085307433 |
LitVar | rs1085307433 |
Map | rs1085307433 |
PheGenI | rs1085307433 |
Biobank | rs1085307433 |
1000 genomes | rs1085307433 |
hgdp | rs1085307433 |
ensembl | rs1085307433 |
geneview | rs1085307433 |
scholar | rs1085307433 |
rs1085307433 | |
pharmgkb | rs1085307433 |
gwascentral | rs1085307433 |
openSNP | rs1085307433 |
23andMe | rs1085307433 |
SNPshot | rs1085307433 |
SNPdbe | rs1085307433 |
MSV3d | rs1085307433 |
GWAS Ctlg | rs1085307433 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1085307433(-;-) |
Alt | rs1085307433(-;-) |
Reference | Rs1085307433(G;G) |
Significance | Pathogenic |
Disease | Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia |
Variation | info |
Gene | ENG LOC102723566 |
CLNDBN | Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia |
Reversed | 1 |
HGVS | NC_000009.11:g.130581013delC |
CLNSRC | |
CLNACC | RCV000488597.1, |