PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
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: rs63750680
rs63750680
1.000 0.080 14 73198076 missense variant T/C snv
CUI: C4024935
Disease: Subcortical dementia
Subcortical dementia
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2004 2004