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: rs28934906
rs28934906
46 0.716 0.320 X 154031355 missense variant G/A snv 0.700 1.000 6 2000 2010
dbSNP: rs180177039
rs180177039
12 0.851 0.160 7 140778006 missense variant T/A;C;G snv 0.700 1.000 5 2006 2008
dbSNP: rs180177035
rs180177035
35 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
dbSNP: rs201431517
rs201431517
17 0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 0.700 1.000 2 2011 2014
dbSNP: rs267607048
rs267607048
16 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.700 1.000 2 2009 2012
dbSNP: rs28933386
rs28933386
15 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 2 2001 2006
dbSNP: rs869320624
rs869320624
13 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 0.700 1.000 2 2016 2017
dbSNP: rs1057516064
rs1057516064
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
3 0.925 0.120 MT 9237 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs121913348
rs121913348
20 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs368085185
rs368085185
2 1.000 2 15539327 missense variant G/A snv 1.6E-05 2.1E-05 0.700 1.000 1 2015 2015
dbSNP: rs1057518759
rs1057518759
2 1.000 0.040 X 18604394 frameshift variant -/GC delins 0.700 0
dbSNP: rs1057518777
rs1057518777
2 15 25339239 splice acceptor variant -/TGAGATGTAGGTA delins 0.700 0
dbSNP: rs1057518800
rs1057518800
2 12 13567228 missense variant C/T snv 0.700 0
dbSNP: rs1057518801
rs1057518801
5 0.851 0.080 2 165130238 missense variant A/G snv 0.700 0
dbSNP: rs1085307135
rs1085307135
5 0.882 0.160 8 143818255 missense variant C/T snv 0.700 0
dbSNP: rs1085308043
rs1085308043
12 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 0
dbSNP: rs1135402758
rs1135402758
5 1.000 9 131199023 intron variant T/- delins 0.700 0
dbSNP: rs121908869
rs121908869
5 0.882 0.160 14 80955802 missense variant G/C snv 4.0E-05 7.0E-06 0.700 0
dbSNP: rs121909219
rs121909219
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
dbSNP: rs121909224
rs121909224
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 0
dbSNP: rs121909231
rs121909231
32 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
dbSNP: rs121913293
rs121913293
18 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 0
dbSNP: rs1554823375
rs1554823375
8 0.851 0.160 10 1080454 missense variant C/T snv 0.700 0
dbSNP: rs28935468
rs28935468
17 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
dbSNP: rs373145711
rs373145711
25 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0