Source: ALL

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: rs514492
rs514492
VCP
0.882 0.160 9 35062975 splice region variant C/T snv 0.75 0.75
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.010 1.000 1 2019 2019
dbSNP: rs514492
rs514492
VCP
0.882 0.160 9 35062975 splice region variant C/T snv 0.75 0.75
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		0.010 1.000 1 2019 2019
dbSNP: rs514492
rs514492
VCP
0.882 0.160 9 35062975 splice region variant C/T snv 0.75 0.75
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2019 2019