Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs759787957
rs759787957
ABCB4
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		0.700 GeneticVariation UNIPROT Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770). 28012258

2017
dbSNP: rs759787957
rs759787957
ABCB4
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		0.700 GeneticVariation UNIPROT Phosphorylation of ABCB4 impacts its function: insights from disease-causing mutations. 24723470

2014
dbSNP: rs759787957
rs759787957
ABCB4
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		0.700 GeneticVariation UNIPROT Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients. 23533021

2013
dbSNP: rs759787957
rs759787957
ABCB4
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		0.700 GeneticVariation UNIPROT Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations. 22331132

2012
dbSNP: rs759787957
rs759787957
ABCB4
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		0.700 GeneticVariation UNIPROT ABCB4 gene mutation-associated cholelithiasis in adults. 12891548

2003
dbSNP: rs759787957
rs759787957
ABCB4
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		0.700 GeneticVariation UNIPROT MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. 11313316

2001