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