PRKCA, protein kinase C alpha, 5578

N. diseases: 368; N. variants: 15
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: rs9900205
rs9900205
0.925 0.120 17 66718990 intron variant A/C;T snv
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs9912468
rs9912468
17 66322239 intron variant G/A;C snv
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2018 2018
dbSNP: rs9912468
rs9912468
17 66322239 intron variant G/A;C snv
CUI: C0018803
Disease: Heart Function Tests
Heart Function Tests
0.700 1.000 1 2010 2010
dbSNP: rs9912468
rs9912468
17 66322239 intron variant G/A;C snv
CUI: C0429097
Disease: QRS complex feature
QRS complex feature
0.700 1.000 1 2016 2016