Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7674434
rs7674434
KLB
0.010 GeneticVariation BEFREE <i>KLB</i> rs7674434 and rs12152703 had associations with alanine aminotransferase (ALT) (<i>P</i> = 0.03 and <i>P</i> = 0.04, respectively) and gamma-glutamyltransferase (<i>P</i> = 0.03 and <i>P</i> = 0.02, respectively) levels in all subjects, but the associations were especially strong with ALT in the NAFLD group (<i>P</i> = 0.005 and <i>P</i> = 0.008, respectively). 31548436

2019

dbSNP: rs12152703
rs12152703
KLB
0.010 GeneticVariation BEFREE <i>KLB</i> rs7674434 and rs12152703 had associations with alanine aminotransferase (ALT) (<i>P</i> = 0.03 and <i>P</i> = 0.04, respectively) and gamma-glutamyltransferase (<i>P</i> = 0.03 and <i>P</i> = 0.02, respectively) levels in all subjects, but the associations were especially strong with ALT in the NAFLD group (<i>P</i> = 0.005 and <i>P</i> = 0.008, respectively). 31548436

2019

dbSNP: rs4823173
rs4823173
0.020 GeneticVariation BEFREE <i>PNPLA3</i> SNPs (rs139051, rs738408, rs738409, rs 2072906, rs2294918, rs2294919, and rs4823173) demonstrated extensive association with the serum lipidomics, especially phospholipid metabolites [lysophosphatidylcholine (LPC), lysophosphatidylcholine plasmalogen (LPCO), lysophosphatdylethanolamine (LPE), phosphatidylcholine (PC), choline plasmalogen (PCO), phosphatidylethanolamine (PE), ethanolamine plasmalogen (PEO)], of NAFLD patients. 30283798

2018

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE Non-alcoholic fatty liver disease (NAFLD) is commonly diagnosed in patients with obesity and type 2 diabetes mellitus (T2DM), and has been associated with the single nucleotide polymorphism (SNP) rs738409 in the PNPLA3 gene. 21665509

2011

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE NAFLD is further favored by the patatin-like phospholipase domain-containing 3 (PNPLA3) p.I148M, transmembrane 6 superfamily member 2 (TM6SF2) p.E167K, and membrane-bound O-acyltransferase domain containing 7 (MBOAT7) rs641738 variants. 27576208

2016

dbSNP: rs1420472625
rs1420472625
0.040 GeneticVariation BEFREE NAFLD is further favored by the patatin-like phospholipase domain-containing 3 (PNPLA3) p.I148M, transmembrane 6 superfamily member 2 (TM6SF2) p.E167K, and membrane-bound O-acyltransferase domain containing 7 (MBOAT7) rs641738 variants. 27576208

2016

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE NAFLD association of PNPLA3 rs738409 was more pronounced among lean individuals (one-tailed p < 0.05) compared to the whole cohort sample. 30539516

2019

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE NAFLD was strongly associated with three genetic variants, TM6SF2 rs58542926, PNPLA3 rs738409 and GCKR rs1260326, and more slightly with ELOVL2 rs2236212, in obese children and adolescents. 31255630

2019

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE NAFLD was strongly associated with three genetic variants, TM6SF2 rs58542926, PNPLA3 rs738409 and GCKR rs1260326, and more slightly with ELOVL2 rs2236212, in obese children and adolescents. 31255630

2019

dbSNP: rs5854292
rs5854292
0.010 GeneticVariation BEFREE Nonalcoholic fatty liver disease (NAFLD) and chronic kidney disease (CKD) share risk factors, and recent meta-analysis confirmed that NAFLD is an independent risk factor for incident CKD.<sup>1</sup> Genetic variants associated with NAFLD, such as patatin-like phospholipase domain-containing-3 (PNPLA3) rs738409<sup>2</sup> and transmembrane 6 superfamily member 2 (TM6SF2) rs5854292,<sup>2</sup> have been reported to be associated with renal function in NAFLD subjects. 31546054

2019

dbSNP: rs11932595
rs11932595
0.010 GeneticVariation BEFREE rs11932595 and rs6843722 showed significant associations with NAFLD (empiric P = 0.0449 and 0.023, respectively). 17696255

2007

dbSNP: rs1805094
rs1805094
0.010 GeneticVariation BEFREE Lys656Asn polymorphism of LEPR gene is associated with obesity parameters, insulin resistance and glucose levels in patients with NAFLD. 22530350

2012

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE rs58542926 is a low-frequency variant with a modest effect on NAFLD, suggesting that carriers of the T allele are slightly more likely to accumulate fat in the liver and develop nonalcoholic steatohepatitis than those without. 25302781

2015

dbSNP: rs1800562
rs1800562
0.070 GeneticVariation BEFREE C282Y mutation might be a genetic marker of NAFLD</span> in Iranian population. 27894410

2016

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE A common non-synonymous polymorphism, E167K, in transmembrane six superfamily member 2 (TM6SF2) gene has been recently associated with an increased hepatic triglyceride content, dyslipidemia and liver fibrosis in NAFLD patients. 25581573

2015

dbSNP: rs8192678
rs8192678
0.030 GeneticVariation BEFREE A common polymorphism in this gene (rs8192678, encoding Gly482Ser) has been associated with NAFLD. 27658772

2017

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE A discrete trait analysis of NAFLD showed that rs58542926 was associated with a modest risk of fatty liver (P = 0.038; odds ratio [OR]: 1.37; 95% confidence interval [CI]: 1.02-1.84); nevertheless, conditioning on patatin-like phospholipase domain-containing 3 (PNPLA3)-rs738409 abolished this effect. 25302781

2015

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE A genetic polymorphism in rs738409, in the patatin-like phospholipase domain-containing 3 gene (PNPLA3), is strongly associated with appearance of in NAFLD. 25678388

2015

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE A genetic variant of patatin-like phospholipase domain-containing 3 (PNPLA3-I14</span>8M) is the most prominent heritable factor associated with NAFLD. 29286303

2017

dbSNP: rs11235972
rs11235972
0.010 GeneticVariation BEFREE A higher prevalence of rs11235972 GG genotype was observed in the NAFLD group compared with the control group. 24124336

2013

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE A nonsynonymous single nucleotide polymorphism rs738409 (I148M) in patatin-like phospholipase domain-containing protein 3 (PNPLA3) predisposes susceptibility to NAFLD; however, its association with steatosis grade is inconsistent in the literature. 23176674

2012

dbSNP: rs1799945
rs1799945
0.050 GeneticVariation BEFREE A potential role for H63D mutations in NAFLD pathogenesis is possible through iron-independent mechanisms. 22611049

2012

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE A recent genome-wide association study identified a genetic variant in the patatin-like phospholipase-3 (PNPLA3) gene (rs738409 C>G) associated with steatosis that was further demonstrated to influence severity of fibrosis in nonalcoholic fatty liver disease. 21488075

2011

dbSNP: rs2854116
rs2854116
0.060 GeneticVariation BEFREE A recent study in Indian subjects suggested common variants in apolipoprotein C3 (APOC3) (T-455C at rs2854116 and C-482T at rs2854117) to contribute to non-alcoholic fatty liver disease (NAFLD), plasma apoC3 and triglyceride concentrations. 22141340

2012

dbSNP: rs2854117
rs2854117
0.060 GeneticVariation BEFREE A recent study in Indian subjects suggested common variants in apolipoprotein C3 (APOC3) (T-455C at rs2854116 and C-482T at rs2854117) to contribute to non-alcoholic fatty liver disease (NAFLD), plasma apoC3 and triglyceride concentrations. 22141340

2012