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: rs6313
rs6313
50 0.590 0.500 13 46895805 synonymous variant G/A snp 0.41 0.39 0.010 1.000 1 2004 2004
dbSNP: rs62636489
rs62636489
2 1.000 0.036 12 52898860 missense variant G/A snp 7.6E-05 0.010 1.000 1 2007 2007
dbSNP: rs2241880
rs2241880
24 0.662 0.393 2 233274722 missense variant A/G snp 0.45 0.43 0.010 1.000 1 2008 2008
dbSNP: rs62625044
rs62625044
1 1.000 0.036 3 184106769 3 prime UTR variant snp 0.010 1.000 1 2008 2008
dbSNP: rs5443
rs5443
65 0.570 0.571 12 6845711 synonymous variant C/T snp 0.36 0.43 0.020 0.500 2 2009 2009
dbSNP: rs137854608
rs137854608
4 0.846 0.107 3 38609776 missense variant C/T snp 2.4E-05 3.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs4680
rs4680
155 0.484 0.821 22 19963748 missense variant G/A snp 0.46 0.45 0.030 1.000 3 2011 2017
dbSNP: rs351855
rs351855
35 0.642 0.357 5 177093242 missense variant G/A snp 0.33 0.27 0.020 1.000 2 2011 2012
dbSNP: rs17618244
rs17618244
KLB
1 1.000 0.036 4 39446909 missense variant G/A snp 0.18 0.15 0.010 1.000 1 2011 2011
dbSNP: rs1768244
rs1768244
1 1.000 0.036 3 39500688 intron variant C/A snp 0.35 0.010 1.000 1 2011 2011
dbSNP: rs1966265
rs1966265
4 0.878 0.107 5 177089630 missense variant G/A,T snp 0.25 0.19 0.010 1.000 1 2011 2011
dbSNP: rs25531
rs25531
39 0.626 0.321 17 30237328 intergenic variant T/C snp 0.010 1.000 1 2011 2011
dbSNP: rs324420
rs324420
36 0.657 0.321 1 46405089 missense variant C/A snp 0.24 0.28 0.020 0.500 2 2012 2014
dbSNP: rs4263839
rs4263839
6 0.821 0.143 9 114804160 intron variant A/G snp 0.73 0.020 0.500 2 2012 2016
dbSNP: rs806378
rs806378
2 1.000 0.036 6 88149832 intron variant C/T snp 0.22 0.020 1.000 2 2012 2013
dbSNP: rs11190140
rs11190140
6 0.821 0.143 10 99531836 intergenic variant T/C snp 0.56 0.010 1.000 1 2012 2012
dbSNP: rs11554825
rs11554825
2 0.923 0.036 2 218261086 5 prime UTR variant C/T snp 0.47 0.010 1.000 1 2012 2012
dbSNP: rs4975017
rs4975017
KLB
1 1.000 0.036 4 39448609 missense variant C/A snp 0.35 0.29 0.010 1.000 1 2012 2012
dbSNP: rs5743836
rs5743836
7 0.821 0.286 3 52226766 intron variant A/G snp 0.18 0.010 1.000 1 2012 2012
dbSNP: rs242924
rs242924
4 0.846 0.071 17 45808001 intron variant G/T snp 0.47 0.020 1.000 2 2013 2016
dbSNP: rs7209436
rs7209436
6 0.821 0.179 17 45792776 intron variant C/T snp 0.46 0.020 1.000 2 2013 2016
dbSNP: rs224222
rs224222
6 0.821 0.179 16 3254463 missense variant C/T snp 0.24 0.22 0.010 1.000 1 2013 2013
dbSNP: rs7130929
rs7130929
1 1.000 0.036 11 18046616 regulatory region variant C/A snp 0.40 0.010 1.000 1 2013 2013
dbSNP: rs17837965
rs17837965
1 1.000 0.036 1 22068132 intron variant A/G snp 5.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs1800870
rs1800870
3 0.878 0.107 17 19649164 intron variant C/T snp 0.010 1.000 1 2014 2014