Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777627
rs587777627
Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C2675481
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		C 0.800 GeneticVariation CLINVAR POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance. 26133394 2016
dbSNP: rs397514632
rs397514632
Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C2675481
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		A 0.800 GeneticVariation CLINVAR GESPA: classifying nsSNPs to predict disease association. 26206375 2015
dbSNP: rs397514632
rs397514632
Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C2675481
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		A 0.800 CausalMutation CLINVAR Genetic Variants That Predispose to DNA Double-Strand Breaks in Lymphocytes From a Subset of Patients With Familial Colorectal Carcinomas. 26344056 2015
dbSNP: rs397514632
rs397514632
Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C2675481
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		A 0.800 GeneticVariation CLINVAR Genetic Variants That Predispose to DNA Double-Strand Breaks in Lymphocytes From a Subset of Patients With Familial Colorectal Carcinomas. 26344056 2015
dbSNP: rs397514632
rs397514632
Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C2675481
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		A 0.800 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: rs397514632
rs397514632
Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C2675481
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		A 0.800 CausalMutation 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: rs397514632
rs397514632
Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C2675481
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.800 GeneticVariation UNIPROT New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. 24501277 2014
dbSNP: rs587777627
rs587777627
Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C2675481
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		C 0.800 GeneticVariation CLINVAR New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. 24501277 2014
dbSNP: rs587777627
rs587777627
Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C2675481
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.800 GeneticVariation UNIPROT New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. 24501277 2014
dbSNP: rs397514632
rs397514632
Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C2675481
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		A 0.800 CausalMutation CLINVAR Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. 23263490 2013
dbSNP: rs397514632
rs397514632
Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C2675481
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		A 0.800 GeneticVariation CLINVAR Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. 23263490 2013
dbSNP: rs397514632
rs397514632
Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C2675481
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.800 GeneticVariation UNIPROT Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. 23263490 2013
dbSNP: rs397514632
rs397514632
Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C2675481
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		A 0.800 GeneticVariation CLINVAR Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers. 23447401 2013
dbSNP: rs587777627
rs587777627
Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C2675481
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.800 GeneticVariation UNIPROT Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. 23263490 2013
dbSNP: rs587777627
rs587777627
Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C2675481
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		C 0.800 GeneticVariation CLINVAR A method to select for mutator DNA polymerase deltas in Saccharomyces cerevisiae. 16699561 2006
dbSNP: rs397514632
rs397514632
Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C2675481
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		A 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs587777627
rs587777627
Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C2675481
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		C 0.800 SusceptibilityMutation CLINVAR