rs730881919, PMS2

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Germline PMS2 mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in Japan. 27589204 2016
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.700 GeneticVariation CLINVAR Germline PMS2 mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in Japan. 27589204 2016