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: rs28936380
rs28936380
0.827 0.080 1 226885546 missense variant C/G;T snv 1.2E-05
CUI: C0497327
Disease: Dementia
Dementia
Nervous System Diseases; Mental Disorders 0.020 1.000 2 2003 2005
dbSNP: rs63750215
rs63750215
0.701 0.240 1 226885603 missense variant A/T snv
CUI: C0497327
Disease: Dementia
Dementia
Nervous System Diseases; Mental Disorders 0.020 1.000 2 2006 2008
dbSNP: rs142690225
rs142690225
0.925 0.080 1 226894111 missense variant G/A snv 1.1E-04 1.1E-04
CUI: C0497327
Disease: Dementia
Dementia
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008