Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779001
rs587779001
MLH1 ; EPM2AIP1
A 0.700 CausalMutation CLINVAR The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype. 24084575

2014
dbSNP: rs587779001
rs587779001
MLH1 ; EPM2AIP1
A 0.700 CausalMutation CLINVAR Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5'UTR. 21840485

2011