rs35631544, PRKCB

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adult T-Cell Lymphoma/Leukemia
CUI: C0023493
Disease: Adult T-Cell Lymphoma/Leukemia
0.010 GeneticVariation BEFREE The most significantly enriched variants, causing p.Lys469Ter in a splice variant of POLK and p.Pro588His in PRKCB, are intriguing candidates as Polk deficient mice display a spontaneous mutator phenotype, whereas PRKCB was recently shown to be somatically mutated in 33% of another peripheral T-cell lymphoma, adult T-cell lymphoma. 30097855 2019
Peripheral T-Cell Lymphoma
CUI: C0079774
Disease: Peripheral T-Cell Lymphoma
0.010 GeneticVariation BEFREE The most significantly enriched variants, causing p.Lys469Ter in a splice variant of POLK and p.Pro588His in PRKCB, are intriguing candidates as Polk deficient mice display a spontaneous mutator phenotype, whereas PRKCB was recently shown to be somatically mutated in 33% of another peripheral T-cell lymphoma, adult T-cell lymphoma. 30097855 2019