AZIN2, antizyme inhibitor 2, 113451

N. diseases: 187; N. variants: 2
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: rs1290309353
rs1290309353 		0.882 0.120 1 33096833 missense variant A/G snv 4.0E-06
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
Creutzfeldt-Jakob Disease, Familial 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs1290309353
rs1290309353 		0.882 0.120 1 33096833 missense variant A/G snv 4.0E-06
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs1290309353
rs1290309353 		0.882 0.120 1 33096833 missense variant A/G snv 4.0E-06
CUI: C2900450
Disease: Other Creutzfeldt-Jakob disease
Other Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs16835244
rs16835244 		1 33096815 missense variant G/A;T snv 4.0E-06; 2.5E-02 9.6E-03
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010