rs587784483, 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.
Lissencephaly 3
CUI: C1969029
Disease: Lissencephaly 3
40 0.925 0.320 12 49185162 missense variant G/A;T snv 0.800 1.000 4 2007 2015
Alpha-Sarcoglycanopathies
CUI: C2936332
Disease: Alpha-Sarcoglycanopathies
58 0.925 0.320 12 49185162 missense variant G/A;T snv 0.700 0
Congenital anomaly of brain
CUI: C0266449
Disease: Congenital anomaly of brain
7 0.925 0.320 12 49185162 missense variant G/A;T snv 0.010 1.000 1 2019 2019