Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs138221037
rs138221037
Entrez Id: 5651
Gene Symbol: TMPRSS15
TMPRSS15
CUI: C0268416
Disease:
Enterokinase Deficiency
C 0.700 CausalMutation CLINVAR Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency. 11719902 2002