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: rs1800571
rs1800571
2 0.925 0.080 3 12381349 missense variant C/A snv 1.4E-05 0.700 0
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.020 1.000 2 2016 2018
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.020 0.500 2 2008 2015
dbSNP: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.020 1.000 2 1997 2007
dbSNP: rs587777230
rs587777230
4 0.851 0.120 3 196707811 stop gained G/A snv 2.1E-05 0.020 0.500 2 2017 2018
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.020 1.000 2 2010 2012
dbSNP: rs10487818
rs10487818
1 1.000 0.080 7 106269615 intron variant A/T snv 1.1E-02 0.010 1.000 1 2009 2009
dbSNP: rs1064891
rs1064891
2 0.925 0.080 10 6234611 3 prime UTR variant T/C snv 0.37 0.010 1.000 1 2008 2008
dbSNP: rs121913564
rs121913564
3 0.882 0.080 18 60371403 missense variant A/C snv 2.0E-05 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs121913566
rs121913566
2 0.925 0.080 18 60372165 missense variant T/C snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs12510549
rs12510549
4 0.882 0.160 4 10274843 intergenic variant T/C snv 0.18 0.010 1.000 1 2008 2008
dbSNP: rs1322837244
rs1322837244
2 0.925 0.080 19 45698622 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs13447331
rs13447331
2 0.925 0.080 18 60371970 missense variant G/A snv 1.7E-04 7.7E-05 0.010 1.000 1 2014 2014
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.010 1.000 1 2001 2001
dbSNP: rs1800949
rs1800949
1 1.000 0.080 6 131807424 upstream gene variant C/G;T snv 0.18 0.010 1.000 1 2008 2008
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs1805096
rs1805096
6 0.827 0.200 1 65636574 synonymous variant G/A snv 0.46 0.43 0.010 1.000 1 2016 2016
dbSNP: rs1805097
rs1805097
22 0.689 0.360 13 109782884 missense variant C/G;T snv 0.35 0.010 1.000 1 2003 2003
dbSNP: rs1805134
rs1805134
2 0.925 0.160 1 65601426 synonymous variant T/C snv 0.22 0.24 0.010 1.000 1 2016 2016
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2012 2012
dbSNP: rs199951903
rs199951903
CYTB ; ND6
2 0.925 0.120 MT 15497 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs201408477
rs201408477
2 0.925 0.080 2 25161455 missense variant A/G snv 1.8E-04 1.6E-04 0.010 1.000 1 2015 2015
dbSNP: rs2076349
rs2076349
3 0.882 0.120 1 209626885 missense variant C/T snv 0.13 0.13 0.010 1.000 1 2016 2016
dbSNP: rs2229616
rs2229616
22 0.732 0.200 18 60372043 missense variant C/T snv 1.6E-02 1.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs2239607
rs2239607
3 0.925 0.120 12 109209475 intron variant A/G snv 0.14 0.010 1.000 1 2011 2011