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: rs752130338
rs752130338
COQ8A
1 1.000 0.080 1 226986637 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs763311061
rs763311061
COQ8A
1 1.000 0.080 1 226983827 missense variant G/A;C snv 3.2E-05; 4.0E-06 0.700 0
dbSNP: rs764847439
rs764847439
COQ8A
1 1.000 0.080 1 226986632 frameshift variant GGG/-;GG;GGGG delins 0.700 0
dbSNP: rs771578775
rs771578775
COQ8A
3 1.000 0.080 1 226982996 stop gained C/T snv 4.5E-05 5.6E-05 0.700 0
dbSNP: rs781518112
rs781518112
COQ8A
1 1.000 0.080 1 226982126 missense variant T/C snv 4.4E-06 0.700 0
dbSNP: rs797045217
rs797045217
COQ8A
1 1.000 0.080 1 226984169 frameshift variant CA/- delins 1.4E-05 0.700 0
dbSNP: rs974677376
rs974677376
COQ8A
1 1.000 0.080 1 226984656 splice donor variant G/A snv 4.0E-06 0.700 0