PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Cognition 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: rs63750082
rs63750082 		0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs63750306
rs63750306 		0.701 0.320 14 73173663 missense variant A/C;G;T snv
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		Mental Disorders 0.010 1.000 1 2004 2004