rs63749833, MLH1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.010 GeneticVariation BEFREE However, IHC analysis of brain tumor tissue of the index patient and his sister showed absence of PMS2 expression, and germline mutation analyses showed biallelic mutations in PMS2: p.Ser46IIe and p.Pro246fs. 21204794 2011