CAST, calpastatin, 831

N. diseases: 141; N. variants: 31
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: rs1235134025
rs1235134025
5 96740769 missense variant C/T snv 4.0E-06
CUI: C0949664
Disease: Tauopathies
Tauopathies
Nervous System Diseases 0.010 1.000 1 2019 2019