TUBB2B, tubulin beta 2B class IIb, 347733

N. diseases: 82; N. variants: 14
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 ×
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: rs137853194
rs137853194 		1.000 6 3225575 missense variant A/G snv
CUI: C3552236
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 		0.800 1.000 4 2009 2016
dbSNP: rs137853195
rs137853195 		1.000 6 3225406 missense variant A/G snv
CUI: C3552236
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 		0.800 1.000 4 2009 2016
dbSNP: rs137853196
rs137853196 		1.000 6 3225296 missense variant A/G snv
CUI: C3552236
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 		0.800 1.000 4 2009 2016
dbSNP: rs397514567
rs397514567 		1.000 6 3224840 missense variant C/T snv
CUI: C3552236
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 		0.800 1.000 4 2009 2016
dbSNP: rs397514568
rs397514568 		1.000 6 3225322 missense variant T/C snv
CUI: C3552236
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 		0.800 1.000 4 2009 2016
dbSNP: rs397514569
rs397514569 		1.000 6 3225739 missense variant A/G snv
CUI: C3552236
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 		0.800 1.000 4 2009 2016
dbSNP: rs398122369
rs398122369 		0.882 0.160 6 3224828 missense variant C/T snv
CUI: C3552236
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 		0.800 1.000 4 2009 2016
dbSNP: rs878853284
rs878853284 		1.000 6 3225373 missense variant C/A snv
CUI: C3552236
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 		0.800 1.000 4 2009 2016
dbSNP: rs1135401758
rs1135401758 		0.882 0.080 6 3227511 missense variant C/G snv
CUI: C3552236
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 		0.700 0
dbSNP: rs1554126886
rs1554126886 		1.000 6 3225218 missense variant G/T snv
CUI: C3552236
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 		0.700 0
dbSNP: rs1554126925
rs1554126925 		1.000 6 3225574 missense variant G/A snv
CUI: C3552236
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 		0.700 0
dbSNP: rs587784498
rs587784498 		1.000 6 3224950 missense variant C/A;T snv 4.6E-06
CUI: C3552236
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 		0.700 0
dbSNP: rs587784502
rs587784502 		1.000 6 3225124 missense variant G/A snv
CUI: C3552236
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 		0.700 0
dbSNP: rs797046075
rs797046075 		1.000 6 3225797 missense variant C/T snv
CUI: C3552236
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 		0.700 0