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: rs397514632
rs397514632
POLD1
A 0.800 GeneticVariation CLINVAR GESPA: classifying nsSNPs to predict disease association. 26206375

2015
dbSNP: rs397514632
rs397514632
POLD1
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
POLD1
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
POLD1
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
POLD1
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
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
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: rs397514632
rs397514632
POLD1
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
POLD1
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
POLD1
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
POLD1
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
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: rs397514632
rs397514632
POLD1
A 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs587777627
rs587777627
POLD1
C 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs10049390
rs10049390
SLCO2A1
A 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241

2019
dbSNP: rs10152518
rs10152518 		G 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142

2019
dbSNP: rs1035209
rs1035209 		T 0.700 GeneticVariation GWASCAT Novel Common Genetic Susceptibility Loci for Colorectal Cancer. 29917119

2019
dbSNP: rs10411210
rs10411210
RHPN2
C 0.700 GeneticVariation GWASCAT Novel Common Genetic Susceptibility Loci for Colorectal Cancer. 29917119

2019
dbSNP: rs10411210
rs10411210
RHPN2
C 0.700 GeneticVariation GWASCAT Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer. 30529582

2019
dbSNP: rs10774214
rs10774214
CCND2-AS1
T 0.700 GeneticVariation GWASCAT Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer. 30529582

2019
dbSNP: rs1078643
rs1078643
TMEM238L ; TMEM220-AS1
A 0.700 GeneticVariation GWASCAT Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer. 30529582

2019
dbSNP: rs1078643
rs1078643
TMEM238L ; TMEM220-AS1
A 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142

2019