rs748787734, TUBB4A

N. diseases: 13
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormal posture
CUI: C0231471
Disease: Abnormal posture
7 0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2014 2014
Abnormality of the basal ganglia
CUI: C4520981
Disease: Abnormality of the basal ganglia
3 0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2014 2014
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
25 0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2014 2014
Cerebellar vermis atrophy
CUI: C0742028
Disease: Cerebellar vermis atrophy
6 0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2014 2014
Cerebral hypomyelination
CUI: C2677328
Disease: Cerebral hypomyelination
6 0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2014 2014
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2014 2014
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2014 2014
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2014 2014
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2014 2014
Kinetic tremor
CUI: C4551521
Disease: Kinetic tremor
5 0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2014 2014
Leukodystrophy, Hypomyelinating, 6
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
28 0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2014 2014
Muscle Hypertonia
CUI: C0026826
Disease: Muscle Hypertonia
21 0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2014 2014
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2014 2014