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
RS536467012 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS538267691 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS541483366 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS553342844 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS554367061 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS556196668 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS55655121 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS556862476 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS558345043 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS55955638 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS559638270 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS565428379 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS569395274 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS569748371 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS570461545 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS61751955 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS745737815 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS745850676 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS746234949 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS746579020 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS747559034 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS747614571 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS747628342 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS747794145 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS748304578 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS748471297 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS748657880 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS749052483 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS749159160 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS749227042 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS749334182 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS749556778 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS749864626 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS750085275 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS750144413 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS750260438 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS750594314 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS750825686 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS750984038 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS751088347 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS751090809 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS751775497 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS752444746 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS752937018 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS753299061 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS753506843 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS753609023 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS753850419 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS753865441 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS753870000 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
« Prev 1 ... 3 4 5 6 7 8 9 Next »
Sign Up to Analyze Your DNA Log In