Gene: POLD1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514632
rs397514632
POLD1
0.010 GeneticVariation BEFREE One known pathogenic variant in POLD1 was detected (p.S478N), together with variants in 17 candidate genes not previously associated with CRC. 31555933

2020
dbSNP: rs587777627
rs587777627
POLD1
0.010 GeneticVariation BEFREE In addition to the POLE p.L424V recurrent mutation in a patient with polyposis, CRC and oligodendroglioma, six novel or rare POLD1 variants (four of them, p.D316H, p.D316G, p.R409W, and p.L474P, with strong evidence for pathogenicity) were identified in nonpolyposis CRC families. 26133394

2016
dbSNP: rs767449295
rs767449295
POLD1
0.010 GeneticVariation BEFREE These findings raise a potentially oncogenic role for the P301S KLF5 mutant in colorectal cancer. 24398687

2014