PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
Disease: Alzheimer Disease, Late Onset ×
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: rs63750207
rs63750207 		1.000 0.080 1 226891773 missense variant C/G;T snv 4.4E-05; 4.0E-06
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2002 2002
dbSNP: rs63750215
rs63750215 		0.701 0.240 1 226885603 missense variant A/T snv
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010