rs150932144
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs150932144(C;T) |
Make rs150932144(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 127825744 |
Gene | ENG, LOC105379841 |
is a | snp |
is | mentioned by |
dbSNP | rs150932144 |
dbSNP (classic) | rs150932144 |
ClinGen | rs150932144 |
ebi | rs150932144 |
HLI | rs150932144 |
Exac | rs150932144 |
Gnomad | rs150932144 |
Varsome | rs150932144 |
LitVar | rs150932144 |
Map | rs150932144 |
PheGenI | rs150932144 |
Biobank | rs150932144 |
1000 genomes | rs150932144 |
hgdp | rs150932144 |
ensembl | rs150932144 |
geneview | rs150932144 |
scholar | rs150932144 |
rs150932144 | |
pharmgkb | rs150932144 |
gwascentral | rs150932144 |
openSNP | rs150932144 |
23andMe | rs150932144 |
SNPshot | rs150932144 |
SNPdbe | rs150932144 |
MSV3d | rs150932144 |
GWAS Ctlg | rs150932144 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs150932144(T;T) |
Alt | rs150932144(T;T) |
Reference | Rs150932144(C;C) |
Significance | Pathogenic |
Disease | Haemorrhagic telangiectasia 1 Osler hemorrhagic telangiectasia syndrome Primary pulmonary hypertension |
Variation | info |
Gene | ENG |
CLNDBN | Haemorrhagic telangiectasia 1 Osler hemorrhagic telangiectasia syndrome Primary pulmonary hypertension |
Reversed | 0 |
HGVS | NC_000009.11:g.130588023C>T |
CLNSRC | |
CLNACC | RCV000148487.1, RCV000457880.1, RCV000488867.1, |