Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587780059
rs587780059
Entrez Id: 5395;7965
Gene Symbol: PMS2;AIMP2
PMS2;AIMP2
CUI: C1838333
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		G 0.700 GeneticVariation CLINVAR Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations. 26898890 2016
dbSNP: rs587780059
rs587780059
Entrez Id: 5395;7965
Gene Symbol: PMS2;AIMP2
PMS2;AIMP2
CUI: C1838333
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		G 0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
dbSNP: rs587780059
rs587780059
Entrez Id: 5395;7965
Gene Symbol: PMS2;AIMP2
PMS2;AIMP2
CUI: C1838333
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		T 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
dbSNP: rs587780059
rs587780059
Entrez Id: 5395;7965
Gene Symbol: PMS2;AIMP2
PMS2;AIMP2
CUI: C1838333
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		T 0.700 CausalMutation CLINVAR Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. 25559809 2015