PRKCG, protein kinase C gamma, 5582

N. diseases: 90; N. variants: 35
Disease: Spinocerebellar ataxia 14 ×
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: rs121918517
rs121918517 		1.000 0.080 19 53898100 missense variant A/C;G snv
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1303074743
rs1303074743 		1.000 0.080 19 53906435 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555806333
rs1555806333 		1.000 0.080 19 53883189 missense variant G/A snv
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555808841
rs1555808841 		1.000 0.080 19 53906892 stop lost GTAATCTCACCCGCCGCCACTAGGTGTCCCCAACGTCCCCTCCGCCGTGCCGGCGGCAGCCCCACTTCACCCCCAACTTCACCACCCCCTGTCCCATTCTAG/- del
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs386134157
rs386134157 		1.000 0.080 19 53882570 missense variant A/G snv
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs386134158
rs386134158 		1.000 0.080 19 53882616 missense variant G/C snv
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs386134160
rs386134160 		1.000 0.080 19 53884187 missense variant T/A;C snv
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs386134161
rs386134161 		1.000 0.080 19 53889648 inframe deletion ACACAA/- delins
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs386134162
rs386134162 		1.000 0.080 19 53889693 missense variant G/A snv
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs386134163
rs386134163 		1.000 0.080 19 53889708 missense variant C/T snv
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs386134164
rs386134164 		1.000 0.080 19 53889719 missense variant G/A snv
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs386134165
rs386134165 		1.000 0.080 19 53889720 missense variant G/A snv
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs386134166
rs386134166 		1.000 0.080 19 53889743 missense variant T/A;C snv 4.0E-06
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs386134167
rs386134167 		1.000 0.080 19 53889744 missense variant G/A snv
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs386134169
rs386134169 		1.000 0.080 19 53889905 missense variant C/A snv
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs386134170
rs386134170 		1.000 0.080 19 53889937 missense variant GC/TT mnv
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs386134171
rs386134171 		1.000 0.080 19 53898097 missense variant G/A snv
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs387906679
rs387906679 		1.000 0.080 19 53900612 missense variant G/T snv
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs78437096
rs78437096 		1.000 0.080 19 53906876 missense variant T/A;C;G snv 4.0E-06; 1.6E-05; 6.4E-05
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045900
rs797045900 		1.000 0.080 19 53882648 missense variant T/A snv
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs121918511
rs121918511 		1.000 0.080 19 53889653 missense variant C/T snv
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.810 1.000 6 2002 2017
dbSNP: rs121918513
rs121918513 		1.000 0.080 19 53889735 missense variant G/A snv
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.810 1.000 4 2003 2017
dbSNP: rs121918512
rs121918512 		1.000 0.080 19 53889707 missense variant T/C snv
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 3 2003 2017
dbSNP: rs121918515
rs121918515 		1.000 0.080 19 53889732 missense variant A/G snv
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 1 2003 2003
dbSNP: rs121918516
rs121918516 		1.000 0.080 19 53906728 missense variant T/C snv
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 1 2004 2004