rs1553281318, COQ8A

N. diseases: 7
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.
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.882 0.120 1 226986536 frameshift variant -/A delins 0.700 0
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.882 0.120 1 226986536 frameshift variant -/A delins 0.700 0
Cerebellar Dysmetria
CUI: C0234162
Disease: Cerebellar Dysmetria
17 0.882 0.120 1 226986536 frameshift variant -/A delins 0.700 0
Dysdiadochokinesis
CUI: C0234979
Disease: Dysdiadochokinesis
7 0.882 0.120 1 226986536 frameshift variant -/A delins 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.882 0.120 1 226986536 frameshift variant -/A delins 0.700 0
Slurred speech
CUI: C0234518
Disease: Slurred speech
10 0.882 0.120 1 226986536 frameshift variant -/A delins 0.700 0
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
32 0.882 0.120 1 226986536 frameshift variant -/A delins 0.700 0