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: rs4680
rs4680
155 0.484 0.821 22 19963748 missense variant G/A snp 0.46 0.45 0.100 0.947 19 2004 2018
dbSNP: rs6265
rs6265
171 0.463 0.679 11 27658369 missense variant C/T snp 0.19 0.15 0.100 0.900 10 2006 2017
dbSNP: rs759834365
rs759834365
157 0.471 0.679 11 27658456 missense variant C/T snp 1.2E-05 0.090 0.889 9 2006 2017
dbSNP: rs1344706
rs1344706
13 0.769 0.071 2 184913701 intron variant A/C,T snp 0.31 0.070 1.000 7 2011 2016
dbSNP: rs6313
rs6313
50 0.590 0.500 13 46895805 synonymous variant G/A snp 0.41 0.39 0.030 1.000 3 2007 2010
dbSNP: rs1006737
rs1006737
31 0.679 0.107 12 2236129 intron variant G/A snp 0.37 0.020 1.000 2 2011 2016
dbSNP: rs1625579
rs1625579
10 0.784 0.036 1 98037378 intron variant G/T snp 0.77 0.020 1.000 2 2014 2014
dbSNP: rs2494732
rs2494732
6 0.846 0.179 14 104772855 intron variant T/C snp 0.50 0.47 0.020 1.000 2 2012 2013
dbSNP: rs6994992
rs6994992
8 0.846 0.036 8 31638065 intergenic variant C/A,T snp 3.2E-05; 0.41 0.020 1.000 2 2008 2009
dbSNP: rs1039002
rs1039002
5 0.846 0.071 6 165741969 intron variant G/A,T snp 5.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs104894685
rs104894685
FTL
4 0.923 0.107 19 48966317 missense variant G/A snp 4.0E-06 3.2E-05 0.010 1.000 1 2006 2006
dbSNP: rs1076560
rs1076560
5 0.846 0.071 11 113412966 intron variant C/A snp 0.17 0.010 1.000 1 2016 2016
dbSNP: rs10994359
rs10994359
7 0.801 0.036 10 60462349 intron variant T/C snp 9.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs12155594
rs12155594
2 1.000 0.036 8 31749079 intron variant C/T snp 8.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs12807809
rs12807809
4 0.878 0.036 11 124736389 regulatory region variant T/C snp 0.20 0.010 1.000 1 2018 2018
dbSNP: rs12966547
rs12966547
7 0.801 0.036 18 55084786 regulatory region variant G/A snp 0.40 0.010 1.000 1 2013 2013
dbSNP: rs1341402
rs1341402
2 1.000 0.036 13 105463160 intron variant T/C snp 0.16 0.010 1.000 1 2010 2010
dbSNP: rs135745
rs135745
5 0.878 0.071 22 38287631 intergenic variant G/C snp 0.47 0.010 < 0.001 1 2008 2008
dbSNP: rs1421292
rs1421292
3 0.923 0.036 13 105545886 intergenic variant T/A snp 0.39 0.010 1.000 1 2010 2010
dbSNP: rs143396368
rs143396368
FXN
7 0.801 0.143 9 69072623 missense variant G/A,C snp 3.2E-05; 8.0E-06 3.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs165599
rs165599
18 0.715 0.250 22 19969258 3 prime UTR variant G/A snp 0.57 0.010 1.000 1 2014 2014
dbSNP: rs1695
rs1695
100 0.510 0.679 11 67585218 missense variant A/G snp 0.34 0.35 0.010 1.000 1 2005 2005
dbSNP: rs17512836
rs17512836
3 0.923 0.036 18 55527730 intron variant T/C snp 2.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs1799971
rs1799971
57 0.611 0.500 6 154039662 missense variant A/G snp 0.19 0.12 0.010 1.000 1 2005 2005
dbSNP: rs1800497
rs1800497
36 0.662 0.250 11 113400106 missense variant G/A snp 0.26 0.26 0.010 1.000 1 2016 2016