PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Frontotemporal dementia ×
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: rs775543665
rs775543665 		1.000 0.120 14 73170827 missense variant G/A;C snv 1.2E-05; 4.0E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018