Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs483352909
rs483352909
POLE
0.800 GeneticVariation UNIPROT A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency. 27573199

2017
dbSNP: rs483352909
rs483352909
POLE
C 0.800 CausalMutation CLINVAR Immunogenomics of Hypermutated Glioblastoma: A Patient with Germline POLE Deficiency Treated with Checkpoint Blockade Immunotherapy. 27683556

2016
dbSNP: rs483352909
rs483352909
POLE
C 0.800 CausalMutation CLINVAR Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. 25529843

2015
dbSNP: rs483352909
rs483352909
POLE
C 0.800 CausalMutation CLINVAR Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer. 25370038

2015
dbSNP: rs483352909
rs483352909
POLE
0.800 GeneticVariation UNIPROT A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine. 25860647

2015
dbSNP: rs483352909
rs483352909
POLE
C 0.800 CausalMutation CLINVAR New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. 24501277

2014
dbSNP: rs483352909
rs483352909
POLE
0.800 GeneticVariation UNIPROT New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. 24501277

2014
dbSNP: rs483352909
rs483352909
POLE
C 0.800 CausalMutation CLINVAR Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. 23263490

2013
dbSNP: rs483352909
rs483352909
POLE
C 0.800 CausalMutation CLINVAR Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers. 23447401

2013
dbSNP: rs483352909
rs483352909
POLE
0.800 GeneticVariation UNIPROT Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. 23263490

2013
dbSNP: rs483352909
rs483352909
POLE
C 0.800 CausalMutation CLINVAR A method to select for mutator DNA polymerase deltas in Saccharomyces cerevisiae. 16699561

2006
dbSNP: rs483352909
rs483352909
POLE
C 0.800 CausalMutation CLINVAR Okazaki fragment maturation in yeast. II. Cooperation between the polymerase and 3'-5'-exonuclease activities of Pol delta in the creation of a ligatable nick. 12424237

2003
dbSNP: rs483352909
rs483352909
POLE
C 0.800 SusceptibilityMutation CLINVAR