rs738409, PNPLA3

N. diseases: 88
Disease: Cholecystolithiasis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cholecystolithiasis
CUI: C0947622
Disease: Cholecystolithiasis
0.030 GeneticVariation BEFREE A second ABC transporter, the hepatic phosphatidylcholine translocase ABCB4, increases the risk for gallstone disease, gallbladder cancer and chronic liver diseases in general, whereas the common PNPLA3 risk variant p.I148M decreases gallstone risk. 30608254 2019
Cholecystolithiasis
CUI: C0947622
Disease: Cholecystolithiasis
0.030 GeneticVariation BEFREE We describe associations that may predict ADEs, e.g., acne, high cholesterol, gout, and gallstones with rs738409 (p.I148M) in PNPLA3 and asthma with rs1990760 (p.T946A) in IFIH1. 30327483 2018
Cholecystolithiasis
CUI: C0947622
Disease: Cholecystolithiasis
0.030 GeneticVariation BEFREE The common adiponutrin variant p.I148M does not confer gallstone risk but affects fasting glucose and triglyceride levels. 21893698 2011