TUBB4A, tubulin beta 4A class IVa, 10382

N. diseases: 107; N. variants: 29
Disease: Global developmental delay ×
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: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2014 2014
dbSNP: rs797045074
rs797045074 		0.882 0.120 19 6495335 missense variant C/G;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0