Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs876661222
rs876661222
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
CATTA 0.700 GeneticVariation CLINVAR

dbSNP: rs876660943
rs876660943
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
T 0.700 GeneticVariation CLINVAR

dbSNP: rs864622153
rs864622153
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 GeneticVariation CLINVAR

dbSNP: rs786201050
rs786201050
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
TG 0.700 GeneticVariation CLINVAR Population-based molecular screening for Lynch syndrome: implications for personalized medicine. 23733757

2013

dbSNP: rs786201050
rs786201050
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
TG 0.700 GeneticVariation CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238

2017

dbSNP: rs786201042
rs786201042
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
T 0.700 GeneticVariation CLINVAR

dbSNP: rs63751319
rs63751319
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 GeneticVariation CLINVAR Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. 16807412

2006

dbSNP: rs63751319
rs63751319
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 GeneticVariation CLINVAR Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts. 18269114

2008

dbSNP: rs63750617
rs63750617
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
T 0.700 GeneticVariation CLINVAR

dbSNP: rs63750119
rs63750119
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 GeneticVariation CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289

2014

dbSNP: rs587779227
rs587779227
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 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: rs587779227
rs587779227
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 GeneticVariation CLINVAR A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 22949379

2013

dbSNP: rs587779227
rs587779227
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 GeneticVariation CLINVAR Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. 25559809

2015

dbSNP: rs587779227
rs587779227
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 GeneticVariation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015

dbSNP: rs587779227
rs587779227
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 GeneticVariation CLINVAR Feasibility of screening for Lynch syndrome among patients with colorectal cancer. 18809606

2008

dbSNP: rs587779227
rs587779227
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 GeneticVariation CLINVAR Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts. 27273229

2017

dbSNP: rs587779227
rs587779227
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016

dbSNP: rs587779227
rs587779227
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 GeneticVariation CLINVAR Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study. 26552419

2015

dbSNP: rs267608122
rs267608122
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 GeneticVariation CLINVAR Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer. 17453009

2007

dbSNP: rs267608122
rs267608122
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016

dbSNP: rs267608122
rs267608122
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 GeneticVariation CLINVAR Risks of Lynch syndrome cancers for MSH6 mutation carriers. 20028993

2010

dbSNP: rs267608122
rs267608122
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 GeneticVariation CLINVAR The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. 24728189

2014

dbSNP: rs267608122
rs267608122
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 GeneticVariation CLINVAR Challenges in the identification of MSH6-associated colorectal cancer: rectal location, less typical histology, and a subset with retained mismatch repair function. 21836479

2011

dbSNP: rs267608122
rs267608122
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 GeneticVariation CLINVAR Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. 18566915

2009

dbSNP: rs267608122
rs267608122
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 GeneticVariation CLINVAR Familial endometrial cancer in female carriers of MSH6 germline mutations. 10508506

1999