Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs55778204
rs55778204
MSH2
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 GeneticVariation UNIPROT Functional analysis of HNPCC-related missense mutations in MSH2. 18822302

2008
dbSNP: rs55778204
rs55778204
MSH2
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 GeneticVariation UNIPROT Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes. 15870828

2005
dbSNP: rs55778204
rs55778204
MSH2
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 GeneticVariation UNIPROT Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). 16451135

2006
dbSNP: rs55778204
rs55778204
MSH2
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 GeneticVariation UNIPROT Novel germline mutations of hMSH2 in a patient with hereditary nonpolyposis colorectal cancer (HNPCC) and in a patient with six primary cancers. 9621522

1998
dbSNP: rs55778204
rs55778204
MSH2
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs55778204
rs55778204
MSH2
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 GeneticVariation UNIPROT Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. 23535968

2013
dbSNP: rs55778204
rs55778204
MSH2
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 GeneticVariation UNIPROT MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system. 18781619

2008
dbSNP: rs55778204
rs55778204
MSH2
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 GeneticVariation UNIPROT A novel missense germline mutation in exon 2 of the hMSH2 gene in a HNPCC family from Southern Italy. 15896463

2005
dbSNP: rs55778204
rs55778204
MSH2
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 GeneticVariation UNIPROT Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. 12658575

2003
dbSNP: rs55778204
rs55778204
MSH2
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 GeneticVariation UNIPROT Population-based molecular detection of hereditary nonpolyposis colorectal cancer. 10829038

2000
dbSNP: rs55778204
rs55778204
MSH2
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 GeneticVariation UNIPROT Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development. 7874129

1994