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: rs80356616
rs80356616
19 0.732 0.360 11 17387917 missense variant C/T snv 0.030 1.000 3 2006 2006
dbSNP: rs180177035
rs180177035
35 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
dbSNP: rs80356624
rs80356624
16 0.752 0.240 11 17387490 missense variant C/A;T snv 0.020 1.000 2 2005 2006
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: 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: rs121913105
rs121913105
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.010 1.000 1 1999 1999
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
dbSNP: rs1310897090
rs1310897090
2 1.000 2 15467394 stop gained G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs179363901
rs179363901
4 0.882 0.120 X 154097661 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs193929337
rs193929337
6 0.827 0.160 11 17387937 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs193929353
rs193929353
4 0.882 0.120 11 17387206 missense variant T/C;G snv 0.010 1.000 1 2005 2005
dbSNP: rs193929358
rs193929358
5 0.851 0.240 11 17387091 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs200345816
rs200345816
3 0.925 0.040 7 102283048 missense variant C/G;T snv 6.0E-05; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs34767364
rs34767364
NBN
20 0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 0.010 1.000 1 2006 2006