APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
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: rs371425292
rs371425292 		0.763 0.160 21 25897627 missense variant C/A;T snv 8.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2001 2017
dbSNP: rs572842823
rs572842823 		0.763 0.160 21 25897626 missense variant T/A;G snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2001 2017
dbSNP: rs63750264
rs63750264 		0.716 0.360 21 25891784 missense variant C/A;G;T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 1993 2005
dbSNP: rs200074159
rs200074159 		0.925 0.080 21 26000036 missense variant T/C snv 2.8E-05 5.6E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2005 2005
dbSNP: rs763852444
rs763852444 		0.882 0.120 21 26112127 missense variant G/C snv 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2001 2001
dbSNP: rs950592627
rs950592627 		0.827 0.200 21 26090015 missense variant G/C snv 7.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2001 2001