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: rs483352809
rs483352809
0.882 0.120 19 6495754 missense variant C/T snv
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs587776983
rs587776983
0.807 0.240 19 6502209 missense variant G/A;C;T snv
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs756762431
rs756762431
1.000 0.120 19 6495654 missense variant C/G;T snv 8.0E-06
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs767399782
rs767399782
0.925 0.120 19 6495736 missense variant C/A;T snv 4.0E-06
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
Nervous System Diseases 0.010 1.000 1 2017 2017