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: rs63750083
rs63750083
0.732 0.160 14 73219177 missense variant C/A;T snv
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019