Disease: Hereditary Nonpolyposis Colorectal Neoplasms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608156
rs267608156
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		CA 0.700 CausalMutation CLINVAR The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene. 23012243 2013
dbSNP: rs267608156
rs267608156
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		CA 0.700 CausalMutation CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922 2008