TUBA3C, tubulin alpha 3c, 7278

N. diseases: 8; N. variants: 1
Disease: AURAL ATRESIA, CONGENITAL ×
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: rs17076896
rs17076896 		0.882 0.160 13 19181923 upstream gene variant T/C snv 8.3E-02
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
AURAL ATRESIA, CONGENITAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2016 2016