TUBA1A, tubulin alpha 1a, 7846

N. diseases: 82; N. variants: 46
Disease: Septo-Optic Dysplasia ×
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: rs1064795738
rs1064795738 		0.925 0.120 12 49185651 missense variant T/G snv
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2018 2018