rs587784482, TUBA1A

N. diseases: 2
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.
Lissencephaly 3
CUI: C1969029
Disease: Lissencephaly 3
40 0.925 0.240 12 49185218 missense variant G/A;T snv 0.700 0
Malformations of Cortical Development
CUI: C1955869
Disease: Malformations of Cortical Development
5 0.925 0.240 12 49185218 missense variant G/A;T snv 0.700 0