Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779067
rs587779067
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721

2014

dbSNP: rs587779067
rs587779067
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Population-based molecular detection of hereditary nonpolyposis colorectal cancer. 10829038

2000

dbSNP: rs587779067
rs587779067
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer. 25070057

2014

dbSNP: rs587779067
rs587779067
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. 21120944

2011

dbSNP: rs587779067
rs587779067
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 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: rs587779067
rs587779067
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017

dbSNP: rs587779067
rs587779067
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. 25452455

2015

dbSNP: rs587779067
rs587779067
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system. 18781619

2008

dbSNP: rs587779067
rs587779067
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Lynch Syndrome: A Primer for Urologists and Panel Recommendations. 25711197

2015

dbSNP: rs587779067
rs587779067
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Functional analysis of human MutSalpha and MutSbeta complexes in yeast. 9889267

1999

dbSNP: rs587779067
rs587779067
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT A novel missense germline mutation in exon 2 of the hMSH2 gene in a HNPCC family from Southern Italy. 15896463

2005

dbSNP: rs587779067
rs587779067
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 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