PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs63750053
rs63750053
0.827 0.120 14 73192721 missense variant G/T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
Nervous System Diseases; Mental Disorders 0.800 1.000 32 1995 2018
dbSNP: rs63750082
rs63750082
0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
Nervous System Diseases; Mental Disorders 0.800 1.000 31 1995 2018
dbSNP: rs63750083
rs63750083
0.732 0.160 14 73219177 missense variant C/A;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
Nervous System Diseases; Mental Disorders 0.800 1.000 29 1995 2018
dbSNP: rs63750231
rs63750231
0.689 0.160 14 73198100 missense variant A/C;G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
Nervous System Diseases; Mental Disorders 0.800 1.000 29 1995 2018
dbSNP: rs63750450
rs63750450
0.851 0.120 14 73173571 missense variant A/G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
Nervous System Diseases; Mental Disorders 0.800 1.000 28 1995 2018
dbSNP: rs63750526
rs63750526
0.776 0.160 14 73192832 missense variant C/A snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
Nervous System Diseases; Mental Disorders 0.800 1.000 25 1995 2018
dbSNP: rs63749891
rs63749891
0.851 0.080 14 73198094 missense variant G/C;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
Nervous System Diseases; Mental Disorders 0.800 1.000 24 1995 2018
dbSNP: rs63750155
rs63750155
1.000 0.080 14 73186904 missense variant T/C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
Nervous System Diseases; Mental Disorders 0.700 1.000 24 1995 2018
dbSNP: rs63750265
rs63750265
0.882 0.080 14 73186869 missense variant T/A;C;G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
Nervous System Diseases; Mental Disorders 0.800 1.000 24 1995 2018
dbSNP: rs63750306
rs63750306
0.701 0.320 14 73173663 missense variant A/C;G;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
Nervous System Diseases; Mental Disorders 0.800 1.000 24 1995 2018
dbSNP: rs63750391
rs63750391
0.882 0.160 14 73173665 missense variant G/A;C;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
Nervous System Diseases; Mental Disorders 0.800 1.000 24 1995 2018
dbSNP: rs63750590
rs63750590
0.790 0.120 14 73186860 missense variant A/G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
Nervous System Diseases; Mental Disorders 0.800 1.000 24 1995 2018
dbSNP: rs63750687
rs63750687
0.752 0.200 14 73217137 missense variant C/A;G;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
Nervous System Diseases; Mental Disorders 0.800 1.000 24 1995 2018
dbSNP: rs121917807
rs121917807
0.925 0.160 14 73198057 missense variant G/A snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
Nervous System Diseases; Mental Disorders 0.700 1.000 20 1995 2018
dbSNP: rs121917808
rs121917808
0.882 0.080 14 73219192 missense variant C/A snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
Nervous System Diseases; Mental Disorders 0.800 1.000 20 1995 2018
dbSNP: rs267606983
rs267606983
0.925 0.080 14 73192744 missense variant G/C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
Nervous System Diseases; Mental Disorders 0.700 1.000 20 1995 2018
dbSNP: rs63749805
rs63749805
0.807 0.120 14 73173577 missense variant C/G;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
Nervous System Diseases; Mental Disorders 0.700 1.000 20 1995 2018
dbSNP: rs63749911
rs63749911
1.000 0.080 14 73186901 missense variant T/C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
Nervous System Diseases; Mental Disorders 0.700 1.000 20 1995 2018
dbSNP: rs63749925
rs63749925
0.882 0.080 14 73219191 missense variant C/T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
Nervous System Diseases; Mental Disorders 0.700 1.000 20 1995 2018
dbSNP: rs63749967
rs63749967
1.000 0.080 14 73170953 missense variant G/C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
Nervous System Diseases; Mental Disorders 0.700 1.000 20 1995 2018
dbSNP: rs63749970
rs63749970
1.000 0.080 14 73192780 missense variant A/T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
Nervous System Diseases; Mental Disorders 0.700 1.000 20 1995 2018
dbSNP: rs63750001
rs63750001
0.851 0.080 14 73219188 missense variant C/T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
Nervous System Diseases; Mental Disorders 0.700 1.000 20 1995 2018
dbSNP: rs63750004
rs63750004
0.851 0.080 14 73173655 missense variant T/A;C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
Nervous System Diseases; Mental Disorders 0.700 1.000 20 1995 2018
dbSNP: rs63750009
rs63750009
0.851 0.120 14 73192760 missense variant A/C;G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
Nervous System Diseases; Mental Disorders 0.700 1.000 20 1995 2018
dbSNP: rs63750050
rs63750050
0.925 0.080 14 73198106 missense variant T/G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
Nervous System Diseases; Mental Disorders 0.700 1.000 20 1995 2018