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: rs28357984
rs28357984
COX1 ; ND2
6 0.851 0.160 MT 5178 missense variant C/A snv 0.010 1.000 1 2005 2005
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.020 1.000 2 2017 2018
dbSNP: rs1800206
rs1800206
35 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 0.010 1.000 1 2002 2002
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2007 2007
dbSNP: rs750249283
rs750249283
2 0.925 0.080 21 42296256 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1042579
rs1042579
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.010 1.000 1 2004 2004
dbSNP: rs147377392
rs147377392
11 0.763 0.120 20 23048144 missense variant A/G snv 1.0E-04 2.8E-04 0.010 1.000 1 2004 2004
dbSNP: rs2295490
rs2295490
16 0.724 0.320 20 388261 missense variant A/G;T snv 0.18; 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs363050
rs363050
8 0.790 0.240 20 10253609 intron variant G/A snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs1800470
rs1800470
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2001 2001
dbSNP: rs4147929
rs4147929
3 0.882 0.120 19 1063444 intron variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs544456198
rs544456198
9 0.790 0.120 19 11116930 missense variant G/T snv 8.0E-06 2.8E-05 0.010 1.000 1 2003 2003
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 < 0.001 1 2004 2004
dbSNP: rs752596535
rs752596535
14 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs884164
rs884164
2 0.925 0.040 19 4521613 upstream gene variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2639990
rs2639990
2 1.000 0.040 18 75203596 intron variant T/C snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs753152
rs753152
6 0.882 0.160 17 42761487 intron variant T/G snv 0.12 0.010 < 0.001 1 2017 2017
dbSNP: rs1800777
rs1800777
17 0.724 0.280 16 56983407 missense variant G/A snv 3.7E-02 2.8E-02 0.010 1.000 1 2000 2000
dbSNP: rs4359426
rs4359426
3 0.925 0.120 16 57358821 missense variant A/C;T snv 0.92 0.94 0.010 1.000 1 2016 2016
dbSNP: rs4782371
rs4782371
3 1.000 0.040 16 88502423 intron variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs5880
rs5880
10 0.827 0.040 16 56981179 missense variant G/C snv 5.2E-02 3.7E-02 0.010 1.000 1 2000 2000
dbSNP: rs5882
rs5882
35 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 0.010 1.000 1 2000 2000
dbSNP: rs72653706
rs72653706
32 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.010 < 0.001 1 2011 2011
dbSNP: rs1320702652
rs1320702652
11 0.752 0.160 15 43824536 missense variant G/A snv 4.0E-06 0.030 1.000 3 2003 2014