Gene: POLD1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777627
rs587777627
POLD1
C 0.700 CausalMutation CLINVAR Characterization of a novel POLD1 missense founder mutation in a Spanish population. 28306219

2017
dbSNP: rs587777627
rs587777627
POLD1
C 0.700 CausalMutation 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: rs398122386
rs398122386
POLD1
T 0.700 CausalMutation CLINVAR Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies. 26350127

2015
dbSNP: rs398122386
rs398122386
POLD1
T 0.700 CausalMutation CLINVAR POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome. 26172944

2015
dbSNP: rs587777627
rs587777627
POLD1
C 0.700 CausalMutation CLINVAR New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. 24501277

2014
dbSNP: rs398122386
rs398122386
POLD1
T 0.700 CausalMutation CLINVAR An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. 23770608

2013
dbSNP: rs587777627
rs587777627
POLD1
C 0.700 CausalMutation CLINVAR A method to select for mutator DNA polymerase deltas in Saccharomyces cerevisiae. 16699561

2006