rs63751202, MLH1

N. diseases: 5
Disease: Lynch Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lynch Syndrome
CUI: C4552100
Disease: Lynch Syndrome
0.010 GeneticVariation BEFREE Evidence from clinical, histological, immunohistochemical, and molecular genetic data suggests that MLH1 c.1664T>C (p.Leu555Pro) is likely to be the pathogenic cause of Lynch syndrome in this family. 23712482 2013