PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Paraparesis, Spastic ×
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: rs63750886
rs63750886 		0.851 0.080 14 73198072 missense variant C/G snv
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2003 2003
dbSNP: rs63750009
rs63750009 		0.851 0.120 14 73192760 missense variant A/C;G snv
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs63750083
rs63750083 		0.732 0.160 14 73219177 missense variant C/A;T snv
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs63750524
rs63750524 		1.000 0.080 14 73198095 missense variant A/C snv
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs63750588
rs63750588 		0.925 0.080 14 73173687 missense variant T/A snv
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs63750599
rs63750599 		0.827 0.160 14 73170963 missense variant T/C snv
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs63750802
rs63750802 		0.851 0.080 14 73219144 missense variant T/G snv
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs63751032
rs63751032 		0.851 0.080 14 73219156 missense variant T/A;G snv
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2007 2007