SPAST, spastin, 6683

N. diseases: 138; N. variants: 113
Disease: Little's Disease ×
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: rs1060502227
rs1060502227 		0.851 0.120 2 32136593 missense variant C/G;T snv
CUI: C0023882
Disease: Little's Disease
Little's Disease 		Nervous System Diseases 0.700 0