PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
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: rs28936379
rs28936379
0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs63750215
rs63750215
0.701 0.240 1 226885603 missense variant A/T snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
Mental Disorders 0.010 1.000 1 2017 2017