rs797045005, TUBA1A

N. diseases: 4
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 0.851 0.320 12 49185140 missense variant A/G snv 0.700 1.000 1 2008 2008
Agenesis of corpus callosum
CUI: C0175754
Disease: Agenesis of corpus callosum
45 0.851 0.320 12 49185140 missense variant A/G snv 0.700 0
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
80 0.851 0.320 12 49185140 missense variant A/G snv 0.700 0
Lissencephaly
CUI: C0266463
Disease: Lissencephaly
9 0.851 0.320 12 49185140 missense variant A/G snv 0.700 0