Gene: MLH1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517541
rs1057517541
MLH1
T 0.700 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016
dbSNP: rs1060500702
rs1060500702
MLH1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs111052004
rs111052004
MLH1 ; EPM2AIP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs11541859
rs11541859
MLH1
T 0.700 CausalMutation CLINVAR

dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
AC 0.700 CausalMutation CLINVAR

dbSNP: rs1481129490
rs1481129490
MLH1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1481129490
rs1481129490
MLH1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553637475
rs1553637475
MLH1 ; EPM2AIP1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553640340
rs1553640340
MLH1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553641269
rs1553641269
MLH1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1553642492
rs1553642492
MLH1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1553642657
rs1553642657
MLH1
T 0.700 CausalMutation CLINVAR Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. 14635101

2003
dbSNP: rs1553642657
rs1553642657
MLH1
T 0.700 CausalMutation CLINVAR Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families. 20937110

2010
dbSNP: rs1553642657
rs1553642657
MLH1
T 0.700 CausalMutation CLINVAR A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting. 18625694

2008
dbSNP: rs1553642657
rs1553642657
MLH1
T 0.700 CausalMutation CLINVAR Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements. 16941473

2006
dbSNP: rs1553642698
rs1553642698
MLH1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553644155
rs1553644155
MLH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553645256
rs1553645256
MLH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553646669
rs1553646669
MLH1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1553647795
rs1553647795
MLH1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553647928
rs1553647928
MLH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553647947
rs1553647947
MLH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553647995
rs1553647995
MLH1
AC 0.700 GeneticVariation CLINVAR

dbSNP: rs1553648029
rs1553648029
MLH1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1553648047
rs1553648047
MLH1
GAGAGC 0.700 GeneticVariation CLINVAR