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: rs1566630811
rs1566630811
1.000 0.120 14 73173591 missense variant A/G snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1566630884
rs1566630884
1.000 0.120 14 73173636 missense variant G/A snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63749824
rs63749824
0.776 0.120 14 73170945 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63749836
rs63749836
0.827 0.160 14 73192786 missense variant G/A snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750590
rs63750590
0.790 0.120 14 73186860 missense variant A/G snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63751223
rs63751223
0.807 0.160 14 73219161 missense variant G/C snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1057518919
rs1057518919
0.851 0.120 14 73171023 missense variant T/G snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs63750306
rs63750306
0.701 0.320 14 73173663 missense variant A/C;G;T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs63750418
rs63750418
0.882 0.120 14 73186877 missense variant T/C snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs63750487
rs63750487
0.882 0.120 14 73192771 missense variant C/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs63751068
rs63751068
0.827 0.120 14 73186920 missense variant G/C;T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs775543665
rs775543665
1.000 0.120 14 73170827 missense variant G/A;C snv 1.2E-05; 4.0E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs63751399
rs63751399
0.882 0.120 14 73171047 missense variant T/A;C snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.810 1.000 2 2004 2010
dbSNP: rs1566650594
rs1566650594
0.851 0.120 14 73206384 splice acceptor variant A/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 1.000 3 2010 2017
dbSNP: rs63751287
rs63751287
0.742 0.120 14 73192792 missense variant A/G;T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.710 1.000 4 2001 2018
dbSNP: rs63750450
rs63750450
0.851 0.120 14 73173571 missense variant A/G snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 1.000 4 1998 2017
dbSNP: rs63751278
rs63751278
0.827 0.120 14 73173631 missense variant A/G snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 1.000 4 1997 2017
dbSNP: rs63750526
rs63750526
0.776 0.160 14 73192832 missense variant C/A snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 1.000 5 1995 2015
dbSNP: rs63750083
rs63750083
0.732 0.160 14 73219177 missense variant C/A;T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 1.000 6 2006 2017
dbSNP: rs63750231
rs63750231
0.689 0.160 14 73198100 missense variant A/C;G snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 1.000 6 1995 2017
dbSNP: rs63750900
rs63750900
0.763 0.160 14 73198067 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 1.000 6 1996 2017
dbSNP: rs63750082
rs63750082
0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 1.000 8 2001 2017
dbSNP: rs63750053
rs63750053
0.827 0.120 14 73192721 missense variant G/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 1.000 9 1998 2017
dbSNP: rs661
rs661
0.807 0.120 14 73217225 missense variant G/A;T snv 4.0E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 1.000 17 1995 2017