Source: BEFREE ×
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: 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: 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: 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: rs1805097
rs1805097
21 0.689 0.360 13 109782884 missense variant C/G;T snv 0.35 0.010 1.000 1 2003 2003
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: rs660339
rs660339
24 0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43 0.010 1.000 1 2007 2007
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: 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: rs12510549
rs12510549
1 0.882 0.160 4 10274843 intergenic variant T/C snv 0.18 0.010 1.000 1 2008 2008
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: rs2229616
rs2229616
18 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: rs35859249
rs35859249
6 0.807 0.200 4 37902468 missense variant C/A;T snv 4.0E-06; 9.7E-02 0.010 1.000 1 2008 2008
dbSNP: rs6449213
rs6449213
3 0.827 0.240 4 9992591 intron variant C/T snv 0.82 0.010 1.000 1 2008 2008
dbSNP: rs7566605
rs7566605
11 0.752 0.320 2 118078449 regulatory region variant C/G snv 0.70 0.010 1.000 1 2008 2008
dbSNP: rs768916374
rs768916374
1 1.000 0.080 18 60371880 missense variant T/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs943003
rs943003
3 0.882 0.120 6 131819872 non coding transcript exon variant C/T snv 0.64 0.010 1.000 1 2008 2008
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: rs6013029
rs6013029
2 0.882 0.160 20 37771178 intron variant G/T snv 0.12 0.010 1.000 1 2009 2009
dbSNP: rs6020846
rs6020846
2 0.925 0.080 20 37777265 intron variant A/G snv 0.13 0.010 1.000 1 2009 2009
dbSNP: rs7001819
rs7001819
2 0.925 0.080 8 11792966 upstream gene variant T/C snv 0.35 0.010 < 0.001 1 2009 2009
dbSNP: rs738409
rs738409
80 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.020 1.000 2 2010 2012
dbSNP: rs2239607
rs2239607
3 0.925 0.120 12 109209475 intron variant A/G snv 0.14 0.010 1.000 1 2011 2011
dbSNP: rs2268388
rs2268388
6 0.851 0.200 12 109205840 intron variant G/A snv 0.14 0.010 1.000 1 2011 2011
dbSNP: rs121913564
rs121913564
2 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: rs1801282
rs1801282
127 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2012 2012