Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587778998
rs587778998
MLH1
G 0.700 GeneticVariation CLINVAR Next-generation sequencing for genetic testing of familial colorectal cancer syndromes. 26300997

2015
dbSNP: rs587778998
rs587778998
MLH1
G 0.700 GeneticVariation CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816

2014
dbSNP: rs587778998
rs587778998
MLH1
G 0.700 GeneticVariation CLINVAR Comprehensive functional assessment of MLH1 variants of unknown significance. 22736432

2012
dbSNP: rs587778998
rs587778998
MLH1
G 0.700 CausalMutation CLINVAR Integrated analysis of unclassified variants in mismatch repair genes. 21239990

2011
dbSNP: rs587778998
rs587778998
MLH1
G 0.700 GeneticVariation CLINVAR Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. 21404117

2011
dbSNP: rs587778998
rs587778998
MLH1
G 0.700 GeneticVariation CLINVAR Integrated analysis of unclassified variants in mismatch repair genes. 21239990

2011
dbSNP: rs587778998
rs587778998
MLH1
G 0.700 CausalMutation CLINVAR Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain. 15475387

2004