Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs145034527
rs145034527
COQ8A
1.000 0.080 1 226982107 missense variant C/T snv 1.0E-04 4.2E-05
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.800 1.000 3 2008 2016
dbSNP: rs201908721
rs201908721
COQ8A
1.000 0.080 1 226982719 missense variant C/T snv 2.8E-05 2.8E-05
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.800 1.000 0 2008 2016
dbSNP: rs1057519344
rs1057519344
COQ8A
1.000 0.080 1 226983549 splice region variant -/GTA delins
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.700 1.000 1 2013 2013
dbSNP: rs1085307053
rs1085307053
COQ8A
1.000 0.080 1 226982960 frameshift variant T/- delins
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.700 1.000 1 2008 2008
dbSNP: rs387906298
rs387906298
COQ8A
1.000 0.080 1 226986604 frameshift variant -/G delins
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.700 1.000 1 2008 2008
dbSNP: rs41303129
rs41303129
COQ8A
1.000 0.080 1 226982947 synonymous variant C/T snv 1.6E-02 1.4E-02
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.700 1.000 1 2008 2008
dbSNP: rs606231138
rs606231138
COQ8A
1.000 0.080 1 226984237 splice donor variant T/C snv
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.700 1.000 1 2008 2008
dbSNP: rs1057519343
rs1057519343
COQ8A
1.000 0.080 1 226984892 missense variant T/C snv 7.0E-06
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.700 0
dbSNP: rs119468004
rs119468004
COQ8A
1.000 0.080 1 226985332 missense variant G/A;C snv 1.6E-05
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.700 0
dbSNP: rs119468005
rs119468005
COQ8A
1.000 0.080 1 226965719 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.700 0
dbSNP: rs119468006
rs119468006
COQ8A
1.000 0.080 1 226982111 missense variant G/A;T snv
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.700 0
dbSNP: rs119468008
rs119468008
COQ8A
1.000 0.080 1 226984910 missense variant A/G snv 7.0E-06
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.700 0
dbSNP: rs119468009
rs119468009
COQ8A
1.000 0.080 1 226985326 missense variant G/A;T snv 1.4E-04; 4.0E-06
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.700 0
dbSNP: rs140246430
rs140246430
COQ8A
1.000 0.080 1 226982725 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.700 0
dbSNP: rs1553280621
rs1553280621
COQ8A
1.000 0.080 1 226984233 frameshift variant G/- del
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.700 0
dbSNP: rs1553281318
rs1553281318
COQ8A
0.882 0.120 1 226986536 frameshift variant -/A delins
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		0.700 0
dbSNP: rs1553281318
rs1553281318
COQ8A
0.882 0.120 1 226986536 frameshift variant -/A delins
CUI: C0004134
Disease: Ataxia
Ataxia 		0.700 0
dbSNP: rs1553281318
rs1553281318
COQ8A
0.882 0.120 1 226986536 frameshift variant -/A delins
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs1553281318
rs1553281318
COQ8A
0.882 0.120 1 226986536 frameshift variant -/A delins
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis 		0.700 0
dbSNP: rs1553281318
rs1553281318
COQ8A
0.882 0.120 1 226986536 frameshift variant -/A delins
CUI: C0234518
Disease: Slurred speech
Slurred speech 		0.700 0
dbSNP: rs1553281318
rs1553281318
COQ8A
0.882 0.120 1 226986536 frameshift variant -/A delins
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.700 0
dbSNP: rs1553281318
rs1553281318
COQ8A
0.882 0.120 1 226986536 frameshift variant -/A delins
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1558212305
rs1558212305
COQ8A
1.000 1 226986807 3 prime UTR variant -/G delins
CUI: C3551954
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1
COENZYME Q10 DEFICIENCY, PRIMARY, 1 		0.700 0
dbSNP: rs201618750
rs201618750
COQ8A
1 226986614 stop gained C/A;T snv 8.0E-06; 2.0E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs373971613
rs373971613
COQ8A
1.000 0.080 1 226982954 missense variant C/G;T snv 1.7E-05; 6.4E-05
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.700 0