rs1085307053, COQ8A

N. diseases: 1
Source: CURATED ×
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 226982960 frameshift variant T/- delins 0.700 1.000 1 2008 2008