rs1057517858, TUBA1A

N. diseases: 3
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.
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.240 12 49185714 missense variant C/A;T snv 0.700 1.000 11 2007 2016
Agenesis of corpus callosum
CUI: C0175754
Disease: Agenesis of corpus callosum
45 0.925 0.240 12 49185714 missense variant C/A;T snv 0.700 0
Lissencephaly 3
CUI: C1969029
Disease: Lissencephaly 3
40 0.925 0.240 12 49185714 missense variant C/A;T snv 0.700 0