Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs145034527
rs145034527
COQ8A
1 1.000 0.080 1 226982107 missense variant C/T snv 1.0E-04 4.2E-05 0.800 1.000 11 2008 2016
dbSNP: rs201908721
rs201908721
COQ8A
1 1.000 0.080 1 226982719 missense variant C/T snv 2.8E-05 2.8E-05 0.800 1.000 9 2008 2016
dbSNP: rs144147839
rs144147839
COQ8A
1 1.000 0.080 1 226984123 missense variant A/G snv 3.1E-04 2.5E-04 0.700 1.000 9 2008 2016
dbSNP: rs61995958
rs61995958
COQ8A
1 1.000 0.080 1 226986598 missense variant C/A;G;T snv 3.2E-05; 3.2E-05; 2.4E-05 0.700 1.000 9 2008 2016
dbSNP: rs778798354
rs778798354
COQ8A
1 1.000 0.080 1 226982734 missense variant G/A;C snv 1.6E-05; 4.0E-06 0.700 1.000 9 2008 2016
dbSNP: rs1057519344
rs1057519344
COQ8A
1 1.000 0.080 1 226983549 splice region variant -/GTA delins 0.700 1.000 1 2013 2013
dbSNP: rs1085307053
rs1085307053
COQ8A
1 1.000 0.080 1 226982960 frameshift variant T/- delins 0.700 1.000 1 2008 2008
dbSNP: rs387906298
rs387906298
COQ8A
1 1.000 0.080 1 226986604 frameshift variant -/G delins 0.700 1.000 1 2008 2008
dbSNP: rs41303129
rs41303129
COQ8A
1 1.000 0.080 1 226982947 synonymous variant C/T snv 1.6E-02 1.4E-02 0.700 1.000 1 2008 2008
dbSNP: rs606231138
rs606231138
COQ8A
1 1.000 0.080 1 226984237 splice donor variant T/C snv 0.700 1.000 1 2008 2008
dbSNP: rs1057519343
rs1057519343
COQ8A
1 1.000 0.080 1 226984892 missense variant T/C snv 7.0E-06 0.700 0
dbSNP: rs119468004
rs119468004
COQ8A
1 1.000 0.080 1 226985332 missense variant G/A;C snv 1.6E-05 0.700 0
dbSNP: rs119468005
rs119468005
COQ8A
1 1.000 0.080 1 226965719 missense variant C/T snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs119468006
rs119468006
COQ8A
1 1.000 0.080 1 226982111 missense variant G/A;T snv 0.700 0
dbSNP: rs119468008
rs119468008
COQ8A
1 1.000 0.080 1 226984910 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs119468009
rs119468009
COQ8A
1 1.000 0.080 1 226985326 missense variant G/A;T snv 1.4E-04; 4.0E-06 0.700 0
dbSNP: rs140246430
rs140246430
COQ8A
1 1.000 0.080 1 226982725 missense variant C/T snv 3.2E-05 2.1E-05 0.700 0
dbSNP: rs1553280621
rs1553280621
COQ8A
1 1.000 0.080 1 226984233 frameshift variant G/- del 0.700 0
dbSNP: rs1553281318
rs1553281318
COQ8A
7 0.882 0.120 1 226986536 frameshift variant -/A delins 0.700 0
dbSNP: rs373971613
rs373971613
COQ8A
1 1.000 0.080 1 226982954 missense variant C/G;T snv 1.7E-05; 6.4E-05 0.700 0
dbSNP: rs387906299
rs387906299
COQ8A
1 1.000 0.080 1 226986539 inframe deletion ACC/- delins 0.700 0
dbSNP: rs578189699
rs578189699
COQ8A
1 1.000 0.080 1 226984901 missense variant C/T snv 4.8E-05 4.9E-05 0.700 0
dbSNP: rs606231139
rs606231139
COQ8A
1 1.000 0.080 1 226965322 frameshift variant AATCCCCTGTTGGGGGCCTCAC/TTG delins 2.0E-05 0.700 0
dbSNP: rs747150601
rs747150601
COQ8A
1 1.000 0.080 1 226983607 stop gained T/A snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs748118737
rs748118737
COQ8A
1 1.000 0.080 1 226982735 missense variant C/T snv 4.0E-05 2.1E-05 0.700 0