Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs887829
rs887829
0.810 GeneticVariation BEFREE Indeed, this is the first report that interested in the study of polymorphisms in genes encoded for enzymes involved in the bilirubin metabolism: rs 4149056 of SLCO1B1 and rs4149000 of SLCO1A2 in combination with rs8175347 and rs887829 of UGT1A1 in order to find a correlation between the polymorphisms studied and the presence of gallstones in a population of sickle cell anemia (SCA) pediatric Tunisians. 26146896

2016

dbSNP: rs887829
rs887829
A 0.810 GeneticVariation GWASCAT A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia. 22558097

2012

dbSNP: rs887829
rs887829
A 0.810 GeneticVariation GWASDB A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia. 22558097

2012

dbSNP: rs8175347
rs8175347
0.020 GeneticVariation BEFREE (TA) n repeat sequence (rs8175347) of UGT1A1 gene promoter polymorphism is associated with serum bilirubin levels and gallstones among different sickle cell anaemia (SCA) populations. 31619193

2019

dbSNP: rs8175347
rs8175347
0.020 GeneticVariation BEFREE Indeed, this is the first report that interested in the study of polymorphisms in genes encoded for enzymes involved in the bilirubin metabolism: rs 4149056 of SLCO1B1 and rs4149000 of SLCO1A2 in combination with rs8175347 and rs887829 of UGT1A1 in order to find a correlation between the polymorphisms studied and the presence of gallstones in a population of sickle cell anemia (SCA) pediatric Tunisians. 26146896

2016

dbSNP: rs6742078
rs6742078
0.020 GeneticVariation BEFREE Second, taking advantage of mendelian randomization, we tested whether a genetic variant in the bilirubin glucoronidating enzyme UGT1A1 (rs6742078) was associated with increased plasma bilirubin levels and, in turn, with an increased risk of symptomatic gallstone disease. 23753274

2013

dbSNP: rs6742078
rs6742078
0.020 GeneticVariation BEFREE The UGT1A1 Gilbert syndrome variant rs6742078 is associated with gallstone disease in men; further studies are required regarding the sex-specific physiology of bilirubin and bile acid metabolism. 20837016

2010

dbSNP: rs4148323
rs4148323
0.010 GeneticVariation BEFREE This study shows that the combined TATA-box variants and G71R mutations of the UGT1A1 is associated with cholelithiasis in beta-thal/Hb E. 18081723

2008

dbSNP: rs774010631
rs774010631
0.010 GeneticVariation BEFREE This study shows that the combined TATA-box variants and G71R mutations of the UGT1A1 is associated with cholelithiasis in beta-thal/Hb E. 18081723

2008