Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519754
rs1057519754
AKT2
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		C 0.700 GeneticVariation CLINVAR Colorectal cancer: mutations in a signalling pathway. 16094359

2005
dbSNP: rs1057519754
rs1057519754
AKT2
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		C 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs74535574
rs74535574
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs74535574
rs74535574
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Mutations of the APC gene in human sporadic colorectal cancers. 12374230

2002
dbSNP: rs74535574
rs74535574
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Comprehensive mutation analysis in colorectal flat adenomas. 22848674

2012
dbSNP: rs74535574
rs74535574
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Comprehensive molecular characterization of human colon and rectal cancer. 22810696

2012
dbSNP: rs74535574
rs74535574
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors. 8187091

1994
dbSNP: rs74535574
rs74535574
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR APC mutations occur early during colorectal tumorigenesis. 1528264

1992
dbSNP: rs74535574
rs74535574
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR "APC mutations in sporadic colorectal tumors: A mutational ""hotspot"" and interdependence of the ""two hits""." 10737795

2000
dbSNP: rs121913462
rs121913462
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR APC mutations occur early during colorectal tumorigenesis. 1528264

1992
dbSNP: rs121913462
rs121913462
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913462
rs121913462
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Genetic analysis in APC, KRAS, and TP53 in patients with stomach and colon cancer. 24861525

2015
dbSNP: rs121913462
rs121913462
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors. 8187091

1994
dbSNP: rs121913333
rs121913333
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors. 8187091

1994
dbSNP: rs121913333
rs121913333
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR HD chromoendoscopy coupled with DNA mass spectrometry profiling identifies somatic mutations in microdissected human proximal aberrant crypt foci. 24651453

2014
dbSNP: rs121913333
rs121913333
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR APC mutations occur early during colorectal tumorigenesis. 1528264

1992
dbSNP: rs121913333
rs121913333
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913332
rs121913332
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Targeted sequencing of cancer-related genes in colorectal cancer using next-generation sequencing. 23700467

2013
dbSNP: rs121913332
rs121913332
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene. 1338904

1992
dbSNP: rs121913332
rs121913332
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Molecular genetic analysis of 103 sporadic colorectal tumours in Czech patients. 21901162

2011
dbSNP: rs121913332
rs121913332
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Comprehensive molecular characterization of human colon and rectal cancer. 22810696

2012
dbSNP: rs121913332
rs121913332
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Mutations of the APC gene in human sporadic colorectal cancers. 12374230

2002
dbSNP: rs121913332
rs121913332
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR "APC mutations in sporadic colorectal tumors: A mutational ""hotspot"" and interdependence of the ""two hits""." 10737795

2000
dbSNP: rs121913332
rs121913332
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Genetic analysis in APC, KRAS, and TP53 in patients with stomach and colon cancer. 24861525

2015
dbSNP: rs121913332
rs121913332
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors. 8187091

1994