KIF5A, kinesin family member 5A, 3798

N. diseases: 112; N. variants: 28
Disease: Spastic Paraplegia ×
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: rs1555177629
rs1555177629 		0.925 0.120 12 57567514 missense variant C/T snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 4 2009 2015
dbSNP: rs121434443
rs121434443 		0.925 0.120 12 57569263 missense variant A/G snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs387907285
rs387907285 		0.925 0.120 12 57568999 missense variant G/A snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs387907287
rs387907287 		0.925 0.120 12 57567515 missense variant G/A snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs121434441
rs121434441 		0.882 0.240 12 57569015 missense variant A/G snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs121434444
rs121434444 		0.882 0.160 12 57569648 missense variant C/T snv 2.8E-05 7.0E-06
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2018 2018