PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Amyloidosis ×
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: rs63750231
rs63750231 		0.689 0.160 14 73198100 missense variant A/C;G snv
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs63750526
rs63750526 		0.776 0.160 14 73192832 missense variant C/A snv
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010