PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
Disease: Language Disorders ×
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: rs142690225
rs142690225 		0.925 0.080 1 226894111 missense variant G/A snv 1.1E-04 1.1E-04
CUI: C0023015
Disease: Language Disorders
Language Disorders 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs200754713
rs200754713 		1 226888954 missense variant A/G snv 4.0E-06; 4.0E-06
CUI: C0023015
Disease: Language Disorders
Language Disorders 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs533813519
rs533813519 		0.851 0.120 1 226888097 missense variant C/A snv 1.9E-04 4.2E-05
CUI: C0023015
Disease: Language Disorders
Language Disorders 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2019 2019