rs587779333, PMS2;AIMP2

N. diseases: 10
Disease: Colorectal cancer, hereditary nonpolyposis, type 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal cancer, hereditary nonpolyposis, type 1
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation CLINVAR Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. 23709753 2013
Colorectal cancer, hereditary nonpolyposis, type 1
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation CLINVAR MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. 20487569 2010
Colorectal cancer, hereditary nonpolyposis, type 1
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922 2008