TUBB4A, tubulin beta 4A class IVa, 10382

N. diseases: 107; N. variants: 29
Disease: Leukodystrophy, Hypomyelinating, 6 ×
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: rs756762431
rs756762431 		1.000 0.120 19 6495654 missense variant C/G;T snv 8.0E-06
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014