POLD1 Chromosome 19

DNA polymerase delta 1, catalytic subunit
437 variants 437 Health Risk

Upload your DNA to see your personal genotypes for variants in POLD1.

What This Gene Does
This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
DNA polymerases
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000062822
Associated Conditions (21)
Colorectal cancer
susceptibility to
10
Hereditary cancer-predisposing syndrome
Familial colorectal cancer
Mandibular hypoplasia-deafness-progeroid syndrome
Immunodeficiency 120
POLD1-related disorder
Combined immunodeficiency
Micrognathia
Hereditary cancer
Familial colorectal cancer type X
Polymerase proofreading-related adenomatous polyposis
Malignant tumor of breast
Carcinoma of colon
Endometrial carcinoma
Uterine corpus endometrial carcinoma
Neoplasm
Intellectual disability
Carcinoma of pancreas
+1 more conditions
Key Variants
RS1021342807
Conflicting classifications of pathogenicity
Colorectal cancer, susceptibility to, 10
Health Risk
RS1027677934
Conflicting classifications of pathogenicity
Colorectal cancer, susceptibility to, 10
Health Risk
RS1028335528
Conflicting classifications of pathogenicity
Colorectal cancer, susceptibility to, 10
Health Risk
RS1031292934
Conflicting classifications of pathogenicity
Colorectal cancer, susceptibility to, 10
Health Risk
RS1032313424
Conflicting classifications of pathogenicity
Colorectal cancer, susceptibility to, 10
Health Risk
RS1038164521
Conflicting classifications of pathogenicity
Colorectal cancer, susceptibility to, 10
Health Risk
RS1040524947
Conflicting classifications of pathogenicity
Colorectal cancer, susceptibility to, 10
Health Risk
RS1057119431
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
Health Risk
RS1057521166
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
Health Risk
RS1057521291
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1057521374
Conflicting classifications of pathogenicity
Colorectal cancer, susceptibility to, 10
Health Risk
RS1057522005
Conflicting classifications of pathogenicity
Colorectal cancer, susceptibility to, 10
Health Risk
All Variants (437)
RSID Category Clinical Significance Conditions
RS2122477513 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2122495575 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2122509398 Health Risk Conflicting classifications of pathogenicity Mandibular hypoplasia-deafness-progeroid syndrome, Hereditary cancer-predisposing syndrome, Mandibular hypoplasia-deafness-progeroid syndrome
RS2513933048 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS2513933082 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS2513933516 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2513972757 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2513977037 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS2513977781 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS2513994179 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS2514016082 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2514070512 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS3218750 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS3218758 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS3218773 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS3218775 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS3219457 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS367680864 Health Risk Conflicting classifications of pathogenicity Malignant tumor of breast, Colorectal cancer, susceptibility to
RS367766963 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS367945387 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS368033860 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS368319533 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS369332787 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS369613619 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS370292497 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS370478977 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS370868833 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS371120096 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS371542643 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS371818433 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS372190244 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS372429157 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS372493810 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS373001984 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS373192520 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS373389672 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS373416476 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS373637566 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS373650022 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS374168125 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS375328523 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS375365167 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS376197467 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS376711125 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS376946722 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS377690809 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS41554817 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS41563714 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS530091118 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS531059492 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
« Prev 1 2 3 4 5 6 7 8 9 Next »
Sign Up to Analyze Your DNA Log In