Disease: Severe combined immunodeficiency with sensitivity to ionizing radiation ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777685
rs587777685
Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
CUI: C1865370
Disease:
Severe combined immunodeficiency with sensitivity to ionizing radiation 		0.010 GeneticVariation BEFREE Here we have identified the first human RS-SCID patient to our knowledge with a DNA-PKcs missense mutation (L3062R). 19075392 2009