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: rs63750155
rs63750155
PSEN1
1.000 0.080 14 73186904 missense variant T/C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 24 1995 2018
dbSNP: rs63750227
rs63750227
PSEN1
1.000 0.080 14 73217221 missense variant G/A snv 7.0E-06
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 24 1995 2018
dbSNP: rs63750592
rs63750592
PSEN1
1.000 0.080 14 73170813 missense variant G/A snv 1.8E-04 2.9E-04
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 24 1995 2018
dbSNP: rs63749911
rs63749911
PSEN1
1.000 0.080 14 73186901 missense variant T/C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
dbSNP: rs63749967
rs63749967
PSEN1
1.000 0.080 14 73170953 missense variant G/C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
dbSNP: rs63749970
rs63749970
PSEN1
1.000 0.080 14 73192780 missense variant A/T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
dbSNP: rs63750249
rs63750249
PSEN1
1.000 0.080 14 73219200 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
dbSNP: rs63750284
rs63750284
PSEN1
1.000 0.080 14 73198082 missense variant C/G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
dbSNP: rs63750321
rs63750321
PSEN1
1.000 0.080 14 73171024 missense variant T/G snv 4.0E-06
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
dbSNP: rs63750323
rs63750323
PSEN1
1.000 0.080 14 73217129 missense variant G/C;T snv 4.0E-06
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
dbSNP: rs63750543
rs63750543
PSEN1
1.000 0.080 14 73198048 missense variant T/C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
dbSNP: rs63750550
rs63750550
PSEN1
1.000 0.080 14 73173576 missense variant C/G;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
dbSNP: rs63751229
rs63751229
PSEN1
1.000 0.080 14 73198060 missense variant C/G;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.800 1.000 4 2010 2014
dbSNP: rs121917809
rs121917809
PSEN1
1.000 0.040 14 73211811 missense variant A/G;T snv 7.6E-05
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u 		0.800 1.000 2 2006 2017
dbSNP: rs1566630791
rs1566630791
PSEN1
1.000 0.080 14 73173583 missense variant C/T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 1 2020 2020
dbSNP: rs1566630811
rs1566630811
PSEN1
1.000 0.120 14 73173591 missense variant A/G snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.700 0
dbSNP: rs1566630884
rs1566630884
PSEN1
1.000 0.120 14 73173636 missense variant G/A snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.700 0
dbSNP: rs1566630910
rs1566630910
PSEN1
1.000 0.080 14 73173651 missense variant G/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 0
dbSNP: rs1566638673
rs1566638673
PSEN1
1.000 0.080 14 73186881 inframe insertion -/TAT delins
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 0
dbSNP: rs1566656702
rs1566656702
PSEN1
1.000 0.080 14 73217173 missense variant G/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 0
dbSNP: rs1566657804
rs1566657804
PSEN1
1.000 0.080 14 73219182 missense variant C/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 0
dbSNP: rs281875357
rs281875357
PSEN1
1.000 0.080 14 73219185 missense variant GC/TG mnv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 0
dbSNP: rs63750219
rs63750219
PSEN1
1.000 0.080 14 73206385 splice acceptor variant G/A;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 0
dbSNP: rs63750761
rs63750761
PSEN1
1.000 0.080 14 73192751 missense variant T/C;G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 0
dbSNP: rs63750799
rs63750799
PSEN1
1.000 0.080 14 73192787 missense variant C/T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 0