Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777686
rs587777686
PRKDC
CUI: C4014833
Disease: IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES 		0.800 GeneticVariation UNIPROT PRKDC mutations in a SCID patient with profound neurological abnormalities. 23722905

2013
dbSNP: rs587777686
rs587777686
PRKDC
CUI: C4014833
Disease: IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES 		0.800 GeneticVariation UNIPROT A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining. 19075392

2009
dbSNP: rs55735910
rs55735910
PRKDC
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.700 GeneticVariation UNIPROT

dbSNP: rs587777685
rs587777685
PRKDC
CUI: C4014833
Disease: IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES 		0.700 GeneticVariation UNIPROT PRKDC mutations in a SCID patient with profound neurological abnormalities. 23722905

2013
dbSNP: rs587777685
rs587777685
PRKDC
CUI: C4014833
Disease: IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES 		0.700 GeneticVariation UNIPROT A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining. 19075392

2009
dbSNP: rs758032015
rs758032015
PRKDC ; LOC105375818
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 GeneticVariation UNIPROT

dbSNP: rs781401034
rs781401034
PRKDC
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 GeneticVariation UNIPROT