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: rs5376
rs5376
1 1.000 0.080 18 77268853 missense variant G/A snv 0.98 0.91 0.010 1.000 1 2014 2014
dbSNP: rs1534891
rs1534891
5 0.827 0.200 22 38299094 intron variant T/C snv 0.90 0.010 1.000 1 2014 2014
dbSNP: rs965972
rs965972
1 1.000 0.080 1 193494720 intron variant G/A snv 0.86 0.010 1.000 1 2008 2008
dbSNP: rs10767664
rs10767664
16 0.752 0.400 11 27704439 intron variant T/A snv 0.83 0.010 1.000 1 2016 2016
dbSNP: rs767749
rs767749
1 1.000 0.080 16 9754614 3 prime UTR variant T/G snv 0.81 0.010 1.000 1 2014 2014
dbSNP: rs769395
rs769395
1 1.000 0.080 2 170860293 3 prime UTR variant G/A snv 0.76 0.010 1.000 1 2012 2012
dbSNP: rs4791230
rs4791230
2 0.925 0.080 17 65136210 intron variant C/T snv 0.75 0.010 1.000 1 2015 2015
dbSNP: rs7481311
rs7481311
2 0.925 0.160 11 27561582 intron variant T/C snv 0.75 0.010 1.000 1 2016 2016
dbSNP: rs274622
rs274622
2 0.925 0.080 7 86643624 upstream gene variant C/T snv 0.67 0.010 1.000 1 2014 2014
dbSNP: rs562859
rs562859
1 1.000 0.080 6 154093438 synonymous variant C/T snv 0.71 0.66 0.010 1.000 1 2015 2015
dbSNP: rs581111
rs581111
1 1.000 0.080 1 28848861 intron variant A/G snv 0.63 0.010 1.000 1 2014 2014
dbSNP: rs1650420
rs1650420
2 1.000 0.080 16 10174473 intron variant T/C snv 0.58 0.010 1.000 1 2013 2013
dbSNP: rs363338
rs363338
1 1.000 0.080 10 117249878 intron variant C/T snv 0.58 0.010 1.000 1 2019 2019
dbSNP: rs4492854
rs4492854
1 1.000 0.080 11 113112812 intron variant C/T snv 0.57 0.010 1.000 1 2013 2013
dbSNP: rs4290270
rs4290270
17 0.724 0.320 12 72022455 synonymous variant A/T snv 0.57 0.55 0.010 1.000 1 2008 2008
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2014 2014
dbSNP: rs7597593
rs7597593
6 0.827 0.160 2 184668853 intron variant T/C snv 0.53 0.010 1.000 1 2015 2015
dbSNP: rs2234918
rs2234918
5 0.827 0.200 1 28863085 synonymous variant C/T snv 0.59 0.50 0.020 1.000 2 2002 2019
dbSNP: rs255105
rs255105
1 1.000 0.080 7 30692491 intron variant T/C snv 0.50 0.010 1.000 1 2018 2018
dbSNP: rs3104703
rs3104703
1 1.000 0.080 16 9971279 intron variant T/G snv 0.48 0.010 1.000 1 2013 2013
dbSNP: rs135745
rs135745
13 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs950302
rs950302
1 1.000 0.080 1 167114567 intron variant A/G snv 0.47 0.010 1.000 1 2010 2010
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2015 2015
dbSNP: rs1997644
rs1997644
1 1.000 0.080 22 38319217 intron variant G/A snv 0.44 0.010 1.000 1 2014 2014
dbSNP: rs9916525
rs9916525
1 1.000 0.080 17 65215319 intron variant C/T snv 0.42 0.010 1.000 1 2015 2015