KIF1A, kinesin family member 1A, 547

N. diseases: 187; N. variants: 45
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: rs1057518760
rs1057518760
1.000 0.080 2 240788182 missense variant C/T snv
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0