rs80356544, TWNK

N. diseases: 1
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.
Infantile onset spinocerebellar ataxia
CUI: C1849096
Disease: Infantile onset spinocerebellar ataxia
10 1.000 0.080 10 100989770 missense variant C/T snv 1.4E-05 0.800 1.000 5 2005 2012