PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Alzheimer's Disease ×
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: rs1800839
rs1800839 		1.000 0.080 14 73136423 5 prime UTR variant C/T snv 5.7E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs1312532981
rs1312532981 		1.000 0.080 14 73170846 missense variant A/G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs63749824
rs63749824 		0.776 0.120 14 73170945 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.030 1.000 3 2016 2016
dbSNP: rs63750599
rs63750599 		0.827 0.160 14 73170963 missense variant T/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs63750815
rs63750815 		0.882 0.080 14 73170974 missense variant G/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2002 2002
dbSNP: rs63751141
rs63751141 		0.882 0.080 14 73170984 missense variant G/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2000 2000
dbSNP: rs63750852
rs63750852 		0.790 0.120 14 73170998 missense variant G/A;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs1057518919
rs1057518919 		0.851 0.120 14 73171023 missense variant T/G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs200576075
rs200576075 		0.925 0.080 14 73171031 missense variant C/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs63750730
rs63750730 		0.827 0.120 14 73173574 missense variant C/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs63749805
rs63749805 		0.807 0.120 14 73173577 missense variant C/G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 1998 2018
dbSNP: rs63750800
rs63750800 		0.882 0.080 14 73173585 missense variant G/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs1446915570
rs1446915570 		0.925 0.080 14 73173623 synonymous variant A/T snv 4.0E-06 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs63750353
rs63750353 		0.925 0.080 14 73173630 missense variant A/G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 1997 1997
dbSNP: rs41345849
rs41345849 		1.000 0.080 14 73173634 missense variant C/G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs63751037
rs63751037 		0.790 0.080 14 73173642 missense variant A/G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2003 2003
dbSNP: rs63751106
rs63751106 		0.827 0.080 14 73173643 missense variant T/A;C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs765670175
rs765670175 		0.790 0.120 14 73173646 missense variant T/A snv 8.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.060 1.000 6 1997 2010
dbSNP: rs1566630910
rs1566630910 		1.000 0.080 14 73173651 missense variant G/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750004
rs63750004 		0.851 0.080 14 73173655 missense variant T/A;C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.030 1.000 3 1999 2010
dbSNP: rs63751071
rs63751071 		1.000 0.080 14 73173656 missense variant T/G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs63750306
rs63750306 		0.701 0.320 14 73173663 missense variant A/C;G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.100 1.000 10 2001 2017
dbSNP: rs63750391
rs63750391 		0.882 0.160 14 73173665 missense variant G/A;C;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 1996 2016
dbSNP: rs63750907
rs63750907 		0.807 0.120 14 73173667 missense variant C/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs866914724
rs866914724 		0.882 0.080 14 73173685 missense variant T/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016