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: rs1137070
rs1137070
9 0.763 0.160 X 43744144 synonymous variant T/C snv 0.62 0.010 1.000 1 2017 2017
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: rs1534891
rs1534891
5 0.827 0.200 22 38299094 intron variant T/C snv 0.90 0.010 1.000 1 2014 2014
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: 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: rs1022563
rs1022563
2 0.925 0.080 20 1973693 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs2235749
rs2235749
7 0.790 0.200 20 1979293 3 prime UTR variant G/A snv 0.37 0.010 1.000 1 2011 2011
dbSNP: rs3915568
rs3915568
2 0.925 0.080 20 62738120 intron variant T/C snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs910080
rs910080
4 0.851 0.120 20 1979580 3 prime UTR variant A/G snv 0.35 0.010 1.000 1 2011 2011
dbSNP: rs2240158
rs2240158
2 0.925 0.120 19 1005231 missense variant C/T snv 0.36 0.41 0.010 1.000 1 2016 2016
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: rs1122079
rs1122079
1 1.000 0.080 17 65218385 intron variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1530351
rs1530351
2 0.925 0.080 17 65135491 intron variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs1714984
rs1714984
1 1.000 0.080 17 12714384 intron variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs2288156
rs2288156
1 1.000 0.080 17 8741536 missense variant C/A;T snv 4.0E-06; 8.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs2292592
rs2292592
1 1.000 0.080 17 65208091 intron variant A/G snv 0.12 0.010 1.000 1 2015 2015
dbSNP: rs2292593
rs2292593
1 1.000 0.080 17 65201802 intron variant T/C snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs2869577
rs2869577
1 1.000 0.080 17 65199474 intron variant C/G snv 0.12 0.010 1.000 1 2015 2015
dbSNP: rs4790953
rs4790953
4 0.851 0.160 17 65230912 downstream gene variant A/C snv 0.17 0.010 1.000 1 2015 2015
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: rs4791746
rs4791746
1 1.000 0.080 17 8723039 intergenic variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs8070231
rs8070231
1 1.000 0.080 17 65198827 intron variant A/G snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs8077696
rs8077696
1 1.000 0.080 17 65196443 intron variant C/A snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs9916525
rs9916525
1 1.000 0.080 17 65215319 intron variant C/T snv 0.42 0.010 1.000 1 2015 2015
dbSNP: rs1650420
rs1650420
2 1.000 0.080 16 10174473 intron variant T/C snv 0.58 0.010 1.000 1 2013 2013