KIF1A, kinesin family member 1A, 547

N. diseases: 187; N. variants: 45
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA ×
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: rs879253888
rs879253888 		0.851 0.120 2 240783777 missense variant G/A snv
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0