Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777627
rs587777627
POLD1
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: rs587777627
rs587777627
POLD1
C 0.800 GeneticVariation CLINVAR New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. 24501277

2014
dbSNP: rs587777627
rs587777627
POLD1
0.800 GeneticVariation UNIPROT New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. 24501277

2014
dbSNP: rs587777627
rs587777627
POLD1
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
POLD1
C 0.800 GeneticVariation CLINVAR A method to select for mutator DNA polymerase deltas in Saccharomyces cerevisiae. 16699561

2006
dbSNP: rs587777627
rs587777627
POLD1
C 0.800 SusceptibilityMutation CLINVAR