Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750232
rs63750232
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis. 28577310

2017
dbSNP: rs63750232
rs63750232
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants. 26951660

2016
dbSNP: rs63750232
rs63750232
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations. 25194673

2014
dbSNP: rs63750232
rs63750232
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Classification of mismatch repair gene missense variants with PON-MMR. 22290698

2012
dbSNP: rs63750232
rs63750232
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae. 17720936

2007
dbSNP: rs63750232
rs63750232
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae. 17720936

2007
dbSNP: rs63750232
rs63750232
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families. 10612836

2000
dbSNP: rs63750232
rs63750232
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR

dbSNP: rs63750232
rs63750232
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs63750232
rs63750232
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR