rs771578775, COQ8A

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.
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
32 1.000 0.080 1 226982996 stop gained C/T snv 4.5E-05 5.6E-05 0.700 0
Ataxia
CUI: C0004134
Disease: Ataxia
68 1.000 0.080 1 226982996 stop gained C/T snv 4.5E-05 5.6E-05 0.020 0.500 2 2010 2012
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 1.000 0.080 1 226982996 stop gained C/T snv 4.5E-05 5.6E-05 0.020 0.500 2 2010 2012