Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607117
rs267607117
TMEM67
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 GeneticVariation BEFREE When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. 19508969

2009