Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918299
rs121918299
TJP2
CUI: C1843139
Disease: Hypercholanemia, Familial
Hypercholanemia, Familial 		0.800 GeneticVariation UNIPROT Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. 12704386

2003