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: rs1060502227
rs1060502227
0.851 0.120 2 32136593 missense variant C/G;T snv
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet
Musculoskeletal Diseases 0.700 0