KIF5A, kinesin family member 5A, 3798

N. diseases: 112; N. variants: 28
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: rs113247976
rs113247976
1.000 0.080 12 57581917 missense variant C/G;T snv 4.0E-06; 1.1E-02
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2018 2018