Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2020912
rs2020912
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.710 GeneticVariation BEFREE No patients displayed a truncating mutation, and 1 CRC patient harbored a novel missense mutation (V878A). 12537658

2002

dbSNP: rs1042821
rs1042821
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.030 GeneticVariation BEFREE In conclusion, our data suggests thatMSH6 Glu39Gly polymorphism is associated with the risk of developing sporadic colorectal cancer in polish population. 28451866

2018

dbSNP: rs1042821
rs1042821
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.030 GeneticVariation BEFREE These findings suggest that hMSH6 Glu39Gly polymorphism is associated with the risk of developing colorectal cancer in the Polish population, probably due to a defective mismatch repair system. 29442465

2017

dbSNP: rs1042821
rs1042821
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.030 GeneticVariation BEFREE The MSH6 G39E germline polymorphism is not associated with an increased risk of either microsatellite stable or unstable sporadic colorectal cancer. 19582761

2009

dbSNP: rs536562413
rs536562413
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 GeneticVariation BEFREE Four single nucleotide polymorphisms in 3 mismatch repair genes (MSH3 R940Q, MSH3 T1036A, MSH6 G39E and MLH1 I219V) were genotyped in 237 colorectal cancer cases and a subcohort of 2,189 participants. 17205513

2007

dbSNP: rs63750258
rs63750258
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 GeneticVariation BEFREE The Glu995STOP founder mutation is not a familial breast cancer predisposition allele and makes only a limited contribution to colorectal cancer burden in Finland. 15805151

2005

dbSNP: rs984907158
rs984907158
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 GeneticVariation BEFREE MSH2 118T>C and MSH6 159C>T promoter polymorphisms and the risk of colorectal cancer. 17942459

2007