SPAST, spastin, 6683

N. diseases: 138; N. variants: 113
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: rs878854991
rs878854991
0.882 0.080 2 32141906 missense variant G/A snv
CUI: C0495694
Disease: Dysarthria and anarthria
Dysarthria and anarthria
0.010 1.000 1 2019 2019