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: rs12883384
rs12883384
2 1.000 0.040 14 46934481 intron variant A/C;T snv 0.700 1.000 1 2008 2008
dbSNP: rs4965121
rs4965121
2 1.000 0.040 15 97975562 downstream gene variant C/A;G snv 0.700 1.000 1 2010 2010
dbSNP: rs9491140
rs9491140
2 1.000 0.040 6 124370091 intron variant C/T snv 0.39 0.700 1.000 1 2010 2010
dbSNP: rs9561329
rs9561329
2 1.000 0.040 13 93358916 intron variant A/G snv 0.15 0.700 1.000 1 2010 2010
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.060 0.667 6 2005 2016
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.060 0.667 6 2005 2016
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.030 1.000 3 2005 2017
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.020 1.000 2 2015 2017
dbSNP: rs680244
rs680244
4 0.882 0.120 15 78578946 intron variant T/C snv 0.60 0.020 1.000 2 2006 2014
dbSNP: rs1010657
rs1010657
1 1.000 0.040 10 122238202 intron variant A/G snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs10251794
rs10251794
1 1.000 0.040 7 146988457 intron variant T/A snv 0.26 0.010 1.000 1 2010 2010
dbSNP: rs1055356
rs1055356
AQR
1 1.000 0.040 15 34855901 3 prime UTR variant T/C snv 0.42 0.010 1.000 1 2013 2013
dbSNP: rs1106634
rs1106634
5 0.851 0.080 8 20208538 intron variant G/A;C;T snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs111339162
rs111339162
1 1.000 0.040 6 154039596 missense variant G/A snv 2.0E-05 1.4E-04 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs12537271
rs12537271
1 1.000 0.040 7 77671409 intron variant C/T snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs13104011
rs13104011
1 1.000 0.040 4 15805410 intron variant C/T snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs1317926854
rs1317926854
1 1.000 0.040 12 72031625 missense variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs1434789
rs1434789
1 1.000 0.040 20 157259 upstream gene variant T/G snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs1490265
rs1490265
2 1.000 0.040 3 67401619 intron variant C/A snv 0.74 0.010 1.000 1 2013 2013
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2017 2017
dbSNP: rs16921695
rs16921695
1 1.000 0.040 8 57145096 intron variant T/G snv 0.33 0.010 1.000 1 2015 2015
dbSNP: rs1909884
rs1909884
2 0.925 0.120 15 32147097 intron variant G/A snv 0.41 0.010 1.000 1 2006 2006
dbSNP: rs2020936
rs2020936
10 0.776 0.160 17 30223796 intron variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs208294
rs208294
9 0.790 0.320 12 121162450 missense variant T/A;C;G snv 0.51 0.010 1.000 1 2012 2012