Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338903
rs80338903
T 0.700 CausalMutation CLINVAR

dbSNP: rs33972313
rs33972313
0.010 GeneticVariation BEFREE rs33972313 was associated with cortical (OR 2.16; 95% CI 1.34 to 3.49, p=0.002) and PSC (OR 1.68; 95% CI 1.06 to 2.65, p=0.03) but not with nuclear cataract. 30442817

2019

dbSNP: rs9506430
rs9506430
0.010 GeneticVariation BEFREE In the subgroup analysis, rs9506430 had a significant effect on the formation of a posterior subcapsular cataract (<i>P</i>=0.002, OR: 0.227, 95%CI: 0.088-0.590) under the recessive model. 31236361

2019

dbSNP: rs58542926
rs58542926
0.010 GeneticVariation BEFREE PNPLA3 p.I148M and TM6SF2 p.E167K variants do not predispose to liver injury in cholestatic liver diseases: A prospective analysis of 178 patients with PSC. 30161167

2018

dbSNP: rs738409
rs738409
0.010 GeneticVariation BEFREE PNPLA3 p.I148M and TM6SF2 p.E167K variants do not predispose to liver injury in cholestatic liver diseases: A prospective analysis of 178 patients with PSC. 30161167

2018

dbSNP: rs2569190
rs2569190
0.010 GeneticVariation BEFREE PSC and LTx cohort patients and primary biliary cirrhosis (PBC) control patients were genotyped for the CD14 -260C>T (rs2569190) polymorphism, and genotypes were correlated with long-term clinical outcome. 26970220

2016

dbSNP: rs28937873
rs28937873
0.010 GeneticVariation BEFREE Three patients who were homozygous for R311Q had posterior subcapsular cataracts and a concentric ring of round pigment clumps.Electroretinograms were extinguished. 19139342

2009

dbSNP: rs1291139
rs1291139
0.010 GeneticVariation BEFREE Here we report linkage of autosomal dominant "progressive childhood posterior subcapsular" cataracts segregating in a white family to short tandem repeat (STR) markers D20S847 (LOD score [Z] 5.50 at recombination fraction [theta] 0.0) and D20S195 (Z=3.65 at theta =0.0) on 20q, and identify a refined disease interval (rs2057262-(3.8 Mb)-rs1291139) by use of single-nucleotide polymorphism (SNP) markers. 17701905

2007

dbSNP: rs2057262
rs2057262
0.010 GeneticVariation BEFREE Here we report linkage of autosomal dominant "progressive childhood posterior subcapsular" cataracts segregating in a white family to short tandem repeat (STR) markers D20S847 (LOD score [Z] 5.50 at recombination fraction [theta] 0.0) and D20S195 (Z=3.65 at theta =0.0) on 20q, and identify a refined disease interval (rs2057262-(3.8 Mb)-rs1291139) by use of single-nucleotide polymorphism (SNP) markers. 17701905

2007