rs1064796460, TUBA1A

N. diseases: 8
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.
Agenesis of corpus callosum
CUI: C0175754
Disease: Agenesis of corpus callosum
45 0.790 0.400 12 49185197 missense variant C/G;T snv 0.700 0
Cerebellar agenesis
CUI: C4022808
Disease: Cerebellar agenesis
1 0.790 0.400 12 49185197 missense variant C/G;T snv 0.700 0
Hypoplasia of the optic nerve
CUI: C0338502
Disease: Hypoplasia of the optic nerve
14 0.790 0.400 12 49185197 missense variant C/G;T snv 0.700 0
Lissencephaly
CUI: C0266463
Disease: Lissencephaly
9 0.790 0.400 12 49185197 missense variant C/G;T snv 0.700 0
Lissencephaly 3
CUI: C1969029
Disease: Lissencephaly 3
40 0.790 0.400 12 49185197 missense variant C/G;T snv 0.700 0
Polymicrogyria
CUI: C0266464
Disease: Polymicrogyria
29 0.790 0.400 12 49185197 missense variant C/G;T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.790 0.400 12 49185197 missense variant C/G;T snv 0.700 0
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
75 0.790 0.400 12 49185197 missense variant C/G;T snv 0.700 0