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: rs1566630811
rs1566630811
1.000 0.120 14 73173591 missense variant A/G snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 0