TUBG1, tubulin gamma 1, 7283

N. diseases: 22; N. variants: 3
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: rs398123045
rs398123045 		1.000 17 42614845 missense variant T/C snv
CUI: C3809420
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 		0.800 0
dbSNP: rs398123046
rs398123046 		1.000 17 42610535 splice donor variant A/G snv
CUI: C3809420
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 		0.800 0
dbSNP: rs398123047
rs398123047 		1.000 17 42614407 missense variant A/C snv
CUI: C3809420
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 		0.800 0