Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs63750231
rs63750231
PSEN1
0.689 0.160 14 73198100 missense variant A/C;G snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.700 1.000 6 1995 2017