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: rs6749704
rs6749704
5 0.827 0.240 2 227813126 intron variant T/C snv 0.24 0.010 < 0.001 1 2016 2016
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: rs10757278
rs10757278
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.010 1.000 1 2009 2009
dbSNP: rs2383207
rs2383207
22 0.695 0.280 9 22115960 intron variant A/G snv 0.64 0.010 1.000 1 2009 2009
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: 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: 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: rs28357984
rs28357984
COX1 ; ND2
6 0.851 0.160 MT 5178 missense variant C/A snv 0.010 1.000 1 2005 2005
dbSNP: rs10741657
rs10741657
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2015 2015
dbSNP: rs12794714
rs12794714
15 0.708 0.360 11 14892029 synonymous variant G/A snv 0.41 0.35 0.010 1.000 1 2015 2015
dbSNP: rs17057255
rs17057255
2 0.925 0.080 8 27503724 missense variant C/T snv 1.3E-02 3.4E-02 0.010 1.000 1 2010 2010
dbSNP: rs751141
rs751141
16 0.732 0.400 8 27516348 missense variant G/A snv 0.12 0.10 0.010 1.000 1 2010 2010
dbSNP: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 < 0.001 1 2008 2008
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 < 0.001 1 2008 2008
dbSNP: rs552953108
rs552953108
F2
16 0.724 0.200 11 46729529 missense variant G/A snv 1.6E-05 4.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs3917643
rs3917643
F3
1 1.000 0.040 1 94536311 intron variant T/C snv 3.9E-02 0.010 1.000 1 2009 2009
dbSNP: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.010 1.000 1 2011 2011
dbSNP: rs1764391
rs1764391
7 0.790 0.160 1 34795168 missense variant C/G;T snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2003 2003
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2003 2003
dbSNP: rs1800730
rs1800730
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 < 0.001 1 2008 2008
dbSNP: rs11549465
rs11549465
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs281860391
rs281860391
2 0.925 0.080 6 31271690 stop gained C/T snv 0.010 < 0.001 1 2005 2005