Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553134935
rs1553134935
G 0.700 GeneticVariation CLINVAR

dbSNP: rs121909293
rs121909293
0.020 GeneticVariation BEFREE For the first time, we demonstrated that the c.180TT genotype of common p.Gly60Gly variant is strong, an independent CP risk factor (OR = 23; 95% CI 7.7-70; P < 0.001) with effect size comparable to p.Arg254Trp mutation. 28968289

2017

dbSNP: rs497078
rs497078
0.020 GeneticVariation BEFREE Our study provides evidence that CTRC variants, including c.180TT (p.Gly60Gly) are strong CP risk factors. 28968289

2017

dbSNP: rs497078
rs497078
0.020 GeneticVariation BEFREE The authors also observed significant association for the synonymous variant c.180C>T (p.(=)) with CP (OR 2.71, 95% CI 1.79 to 4.12, p=5.3 × 10(-7)). 22580415

2013

dbSNP: rs121909293
rs121909293
0.020 GeneticVariation BEFREE Two CTRC alterations, p.R254W and p.K247_R254del, are significantly associated with idiopathic as well as alcohol-related CP. 21525753

2010