rs142896669
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs142896669(C;T) |
Make rs142896669(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 127818173 |
Gene | ENG, LOC102723566 |
is a | snp |
is | mentioned by |
dbSNP | rs142896669 |
dbSNP (classic) | rs142896669 |
ClinGen | rs142896669 |
ebi | rs142896669 |
HLI | rs142896669 |
Exac | rs142896669 |
Gnomad | rs142896669 |
Varsome | rs142896669 |
LitVar | rs142896669 |
Map | rs142896669 |
PheGenI | rs142896669 |
Biobank | rs142896669 |
1000 genomes | rs142896669 |
hgdp | rs142896669 |
ensembl | rs142896669 |
geneview | rs142896669 |
scholar | rs142896669 |
rs142896669 | |
pharmgkb | rs142896669 |
gwascentral | rs142896669 |
openSNP | rs142896669 |
23andMe | rs142896669 |
SNPshot | rs142896669 |
SNPdbe | rs142896669 |
MSV3d | rs142896669 |
GWAS Ctlg | rs142896669 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs142896669(T;T) |
Alt | rs142896669(T;T) |
Reference | Rs142896669(C;C) |
Significance | Pathogenic |
Disease | Osler hemorrhagic telangiectasia syndrome not specified Primary pulmonary hypertension |
Variation | info |
Gene | ENG LOC102723566 |
CLNDBN | Osler hemorrhagic telangiectasia syndrome not specified Primary pulmonary hypertension |
Reversed | 0 |
HGVS | NC_000009.11:g.130580452C>T |
CLNSRC | |
CLNACC | RCV000226902.2, RCV000454429.1, RCV000488732.1, |