TUBB4A, tubulin beta 4A class IVa, 10382

N. diseases: 107; N. variants: 29
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: rs748787734
rs748787734
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2014 2014