TUBA1A, tubulin alpha 1a, 7846

N. diseases: 82; N. variants: 46
Disease: Malformations of Cortical Development ×
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: rs587784482
rs587784482 		0.925 0.240 12 49185218 missense variant G/A;T snv
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0