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: rs1057518919
rs1057518919
PSEN1
0.851 0.120 14 73171023 missense variant T/G snv
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.700 0
dbSNP: rs1057518919
rs1057518919
PSEN1
0.851 0.120 14 73171023 missense variant T/G snv
CUI: C0497327
Disease: Dementia
Dementia 		0.700 0
dbSNP: rs1057518919
rs1057518919
PSEN1
0.851 0.120 14 73171023 missense variant T/G snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.010 1.000 1 2018 2018
dbSNP: rs1057518919
rs1057518919
PSEN1
0.851 0.120 14 73171023 missense variant T/G snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.010 1.000 1 2018 2018
dbSNP: rs1057518919
rs1057518919
PSEN1
0.851 0.120 14 73171023 missense variant T/G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2014 2014