Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779340
rs587779340
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1838333
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
A 0.700 GeneticVariation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104 2016
dbSNP: rs587779340
rs587779340
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1838333
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
A 0.700 GeneticVariation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
dbSNP: rs587779340
rs587779340
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1838333
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
A 0.700 CausalMutation CLINVAR