TUBB, tubulin beta class I, 203068

N. diseases: 96; N. variants: 7
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 ×
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: rs587777355
rs587777355 		1.000 6 30723957 missense variant A/G snv
CUI: C4014283
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 		0.800 1.000 1 2012 2012
dbSNP: rs587777356
rs587777356 		1.000 6 30724119 missense variant G/A snv
CUI: C4014283
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 		0.800 1.000 1 2012 2012
dbSNP: rs587777357
rs587777357 		0.925 6 30724263 missense variant G/A snv
CUI: C4014283
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 		0.800 1.000 1 2012 2012
dbSNP: rs878853162
rs878853162 		0.851 0.320 6 30723724 missense variant C/T snv
CUI: C4014283
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 		0.700 0