rs386794162, TUBB3

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.
Congenital Fibrosis of the Extraocular Muscles
CUI: C1302995
Disease: Congenital Fibrosis of the Extraocular Muscles
4 0.925 0.160 16 89935711 missense variant CG/GA mnv 0.010 1.000 1 2012 2012
Polymicrogyria
CUI: C0266464
Disease: Polymicrogyria
29 0.925 0.160 16 89935711 missense variant CG/GA mnv 0.010 1.000 1 2012 2012