PRKCG, protein kinase C gamma, 5582

N. diseases: 90; N. variants: 35
Disease: Cerebellar Ataxia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918514
rs121918514 		0.925 0.080 19 53889705 missense variant G/A snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs121918518
rs121918518 		1.000 0.080 19 53889655 missense variant C/G snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2005 2005