rs397514749, SPTBN2

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.
Spinocerebellar Ataxia Type 5
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
7 1.000 0.080 11 66707731 missense variant G/A snv 0.800 1.000 3 2006 2013
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 1.000 0.080 11 66707731 missense variant G/A snv 0.010 1.000 1 2020 2020