PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Familial (FPAH) ×
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: rs17125721
rs17125721 		0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2000 2000
dbSNP: rs63749891
rs63749891 		0.851 0.080 14 73198094 missense variant G/C;T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 1997 1997
dbSNP: rs63750231
rs63750231 		0.689 0.160 14 73198100 missense variant A/C;G snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2012 2012
dbSNP: rs63751024
rs63751024 		0.851 0.120 14 73192793 missense variant T/C snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2006 2006
dbSNP: rs63751210
rs63751210 		0.882 0.080 14 73186878 missense variant C/T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2001 2001
dbSNP: rs866914724
rs866914724 		0.882 0.080 14 73173685 missense variant T/C snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2016 2016