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: rs104894228
rs104894228
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs104894421
rs104894421
4 0.882 0.200 13 108210436 missense variant C/A;T snv 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs104894884
rs104894884
4 0.882 0.040 X 119871933 missense variant G/C snv 0.010 1.000 1 2007 2007
dbSNP: rs104894885
rs104894885
5 0.851 0.120 X 119873312 missense variant G/A;C snv 0.010 1.000 1 2007 2007
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: rs1057517718
rs1057517718
4 0.882 0.160 16 1447498 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1057517846
rs1057517846
2 1.000 16 78108446 stop gained G/A snv 0.010 1.000 1 2016 2016
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: rs1206736425
rs1206736425
2 1 161626229 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs121434618
rs121434618
7 0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06 0.010 1.000 1 2019 2019
dbSNP: rs121908332
rs121908332
5 0.882 0.240 8 139618677 missense variant C/G;T snv 0.010 1.000 1 2016 2016
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: rs121913105
rs121913105
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.010 1.000 1 1999 1999
dbSNP: rs121913293
rs121913293
18 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 0
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: rs1285524167
rs1285524167
8 0.807 0.280 11 17475004 missense variant C/T snv 8.0E-06 0.010 1.000 1 2006 2006