rs1085307431
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Chromosome | 9 |
Position | 127825259 |
Gene | ENG, LOC105379841 |
is a | snp |
is | mentioned by |
dbSNP | rs1085307431 |
dbSNP (classic) | rs1085307431 |
ClinGen | rs1085307431 |
ebi | rs1085307431 |
HLI | rs1085307431 |
Exac | rs1085307431 |
Gnomad | rs1085307431 |
Varsome | rs1085307431 |
LitVar | rs1085307431 |
Map | rs1085307431 |
PheGenI | rs1085307431 |
Biobank | rs1085307431 |
1000 genomes | rs1085307431 |
hgdp | rs1085307431 |
ensembl | rs1085307431 |
geneview | rs1085307431 |
scholar | rs1085307431 |
rs1085307431 | |
pharmgkb | rs1085307431 |
gwascentral | rs1085307431 |
openSNP | rs1085307431 |
23andMe | rs1085307431 |
SNPshot | rs1085307431 |
SNPdbe | rs1085307431 |
MSV3d | rs1085307431 |
GWAS Ctlg | rs1085307431 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1085307431(A;A) |
Alt | rs1085307431(A;A) |
Reference | Rs1085307431(T;T) |
Significance | Pathogenic |
Disease | Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia |
Variation | info |
Gene | ENG |
CLNDBN | Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia |
Reversed | 1 |
HGVS | NC_000009.11:g.130587538A>T |
CLNSRC | |
CLNACC | RCV000488736.1, |