Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs748787734
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C0742028
Disease: Cerebellar vermis atrophy
Cerebellar vermis atrophy 		0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C4551521
Disease: Kinetic tremor
Kinetic tremor 		0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C4520981
Disease: Abnormality of the basal ganglia
Abnormality of the basal ganglia 		0.700 1.000 1 2014 2014