TUBB2A, tubulin beta 2A class IIa, 7280

N. diseases: 37; N. variants: 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: rs2808001
rs2808001 		1.000 6 3154458 missense variant G/A snv 3.4E-05
CUI: C3810407
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 		0.800 1.000 1 2014 2014
dbSNP: rs886037663
rs886037663 		1.000 6 3154460 missense variant G/C snv
CUI: C3810407
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 		0.800 1.000 1 2014 2014
dbSNP: rs1064795334
rs1064795334 		1.000 6 3154909 missense variant C/T snv
CUI: C3810407
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 		0.700 0
dbSNP: rs774124807
rs774124807 		1.000 0.080 6 3155718 missense variant G/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs797046074
rs797046074 		1.000 6 3154168 missense variant T/A snv
CUI: C3810407
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 		0.700 0
dbSNP: rs863224939
rs863224939 		1.000 6 3154329 missense variant T/G snv
CUI: C3810407
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 		0.700 0