Source: BEFREE

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: rs63750306
rs63750306
PSEN1
0.701 0.320 14 73173663 missense variant A/C;G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 1.000 10 2001 2017
dbSNP: rs63750306
rs63750306
PSEN1
0.701 0.320 14 73173663 missense variant A/C;G;T snv
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.090 1.000 9 1997 2013
dbSNP: rs63750306
rs63750306
PSEN1
0.701 0.320 14 73173663 missense variant A/C;G;T snv
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.050 1.000 5 1998 2013
dbSNP: rs63750306
rs63750306
PSEN1
0.701 0.320 14 73173663 missense variant A/C;G;T snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.050 1.000 5 1998 2013
dbSNP: rs63750306
rs63750306
PSEN1
0.701 0.320 14 73173663 missense variant A/C;G;T snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.050 1.000 5 1998 2013
dbSNP: rs63750306
rs63750306
PSEN1
0.701 0.320 14 73173663 missense variant A/C;G;T snv
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		0.010 1.000 1 1998 1998
dbSNP: rs63750306
rs63750306
PSEN1
0.701 0.320 14 73173663 missense variant A/C;G;T snv
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 1.000 1 2004 2004
dbSNP: rs63750306
rs63750306
PSEN1
0.701 0.320 14 73173663 missense variant A/C;G;T snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.010 1.000 1 2017 2017
dbSNP: rs63750306
rs63750306
PSEN1
0.701 0.320 14 73173663 missense variant A/C;G;T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.010 1.000 1 2013 2013
dbSNP: rs63750306
rs63750306
PSEN1
0.701 0.320 14 73173663 missense variant A/C;G;T snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.010 1.000 1 2016 2016
dbSNP: rs63750306
rs63750306
PSEN1
0.701 0.320 14 73173663 missense variant A/C;G;T snv
CUI: C3840049
Disease: Dysexecutive syndrome
Dysexecutive syndrome 		0.010 1.000 1 2017 2017
dbSNP: rs63750306
rs63750306
PSEN1
0.701 0.320 14 73173663 missense variant A/C;G;T snv
CUI: C0002893
Disease: Refractory anemias
Refractory anemias 		0.010 1.000 1 1998 1998
dbSNP: rs63750306
rs63750306
PSEN1
0.701 0.320 14 73173663 missense variant A/C;G;T snv
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.010 1.000 1 2005 2005
dbSNP: rs63750306
rs63750306
PSEN1
0.701 0.320 14 73173663 missense variant A/C;G;T snv
CUI: C0751071
Disease: Familial Dementia
Familial Dementia 		0.010 1.000 1 2013 2013
dbSNP: rs63750306
rs63750306
PSEN1
0.701 0.320 14 73173663 missense variant A/C;G;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 1.000 1 1998 1998
dbSNP: rs63750306
rs63750306
PSEN1
0.701 0.320 14 73173663 missense variant A/C;G;T snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 1.000 1 2004 2004