TUBB3, tubulin beta 3 class III, 10381

N. diseases: 259; N. variants: 25
Disease: Macular dystrophy, corneal type 1 ×
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: rs886041459
rs886041459 		0.925 0.080 16 89935140 missense variant C/T snv
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2016 2016