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: rs121913355
rs121913355
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs1276519904
rs1276519904
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
dbSNP: rs587777893
rs587777893
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1554700718
rs1554700718
59 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
dbSNP: rs779027563
rs779027563
58 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs886041065
rs886041065
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
dbSNP: rs1554333853
rs1554333853
54 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs121918455
rs121918455
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 1.000 4 2002 2009
dbSNP: rs398124401
rs398124401
26 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
dbSNP: rs80338945
rs80338945
32 0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 0.700 0
dbSNP: rs1364709483
rs1364709483
36 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
dbSNP: rs1555038111
rs1555038111
37 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
dbSNP: rs1569509136
rs1569509136
24 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1034395178
rs1034395178
33 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs1057519946
rs1057519946
18 0.732 0.280 19 52212729 missense variant C/G;T snv 0.700 0
dbSNP: rs1559470315
rs1559470315
26 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
dbSNP: rs1564919048
rs1564919048
23 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
dbSNP: rs28934907
rs28934907
30 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
dbSNP: rs1557570794
rs1557570794
15 0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 0.700 0
dbSNP: rs1557781252
rs1557781252
33 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
18 0.742 0.320 MT 8993 missense variant T/C;G snv 0.700 0
dbSNP: rs559979281
rs559979281
23 0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04 0.700 0
dbSNP: rs587784347
rs587784347
38 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs863225422
rs863225422
23 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
dbSNP: rs121908557
rs121908557
23 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 2 2004 2008