Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852704
rs137852704
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0221043
Disease:
Liddle Syndrome
T 0.700 CausalMutation CLINVAR Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome. 27900368 2016