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: rs267606621
rs267606621
3 0.882 0.080 16 70268356 missense variant C/T snv 0.710 1.000 1 2012 2012
dbSNP: rs797044801
rs797044801
1 1.000 0.080 16 70254688 missense variant T/G snv 0.700 0
dbSNP: rs1179887323
rs1179887323
1 1.000 0.080 6 44307303 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs73982299
rs73982299
1 1.000 0.080 17 37274293 missense variant C/T snv 2.3E-04 9.3E-04 0.010 1.000 1 2020 2020
dbSNP: rs1037610094
rs1037610094
1 1.000 0.080 8 26864491 missense variant C/G;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs17683288
rs17683288
2 0.925 0.080 8 1929314 missense variant T/G snv 5.4E-02 5.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs2294039
rs2294039
2 0.925 0.080 8 1909425 missense variant G/A snv 3.1E-02 3.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs587777712
rs587777712
1 1.000 0.080 8 1882687 missense variant G/A;C snv 1.8E-05 0.700 1.000 1 2014 2014
dbSNP: rs9657362
rs9657362
3 0.882 0.120 8 1885635 missense variant G/C;T snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs1553192091
rs1553192091
2 0.925 0.080 1 116395247 missense variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
4 0.882 0.120 MT 9185 missense variant T/C snv 0.700 1.000 1 2012 2012
dbSNP: rs121918312
rs121918312
11 0.776 0.160 10 119672373 missense variant C/A;T snv 0.700 0
dbSNP: rs137852973
rs137852973
13 0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs113994102
rs113994102
2 0.925 0.160 18 79710825 intron variant C/T snv 0.700 1.000 1 2005 2005
dbSNP: rs776497952
rs776497952
1 1.000 0.080 10 12117722 missense variant C/A;T snv 2.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs730882139
rs730882139
2 0.925 0.080 2 219281772 splice donor variant G/A snv 0.700 0
dbSNP: rs730882140
rs730882140
2 0.925 0.080 2 219279847 missense variant A/G snv 0.700 0
dbSNP: rs121909088
rs121909088
3 0.925 0.080 19 10819992 missense variant A/G snv 0.010 1.000 1 2009 2009
dbSNP: rs199927590
rs199927590
1 1.000 0.080 19 10797424 missense variant A/G snv 1.1E-04 1.0E-04 0.700 1.000 1 2014 2014
dbSNP: rs267606772
rs267606772
3 0.925 0.080 19 10793799 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs387906738
rs387906738
3 0.882 0.080 14 101980506 missense variant A/G snv 0.700 1.000 1 2011 2011
dbSNP: rs587781253
rs587781253
1 1.000 0.080 14 101985925 missense variant G/A snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs104894158
rs104894158
5 0.851 0.080 10 62813835 missense variant A/T snv 0.010 1.000 1 2009 2009
dbSNP: rs104894159
rs104894159
5 0.827 0.080 10 62813413 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs104894161
rs104894161
6 0.807 0.080 10 62813563 missense variant G/A snv 0.010 1.000 1 2005 2005