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: rs6675281
rs6675281
7 0.827 0.080 1 231818355 missense variant C/T snv 0.11 0.14 0.010 1.000 1 2013 2013
dbSNP: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.040 1.000 4 2012 2014
dbSNP: rs10994336
rs10994336
12 0.776 0.160 10 60420054 intron variant C/T snv 7.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs1170191
rs1170191
1 13 42101357 intron variant A/G;T snv 0.010 1.000 1 2014 2014
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 2014 2014
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2014 2014
dbSNP: rs2522833
rs2522833
7 0.827 0.080 7 82824392 missense variant A/C snv 0.45 0.34 0.010 1.000 1 2014 2014
dbSNP: rs3771829
rs3771829
9 0.790 0.120 2 75137019 intron variant C/G snv 0.11 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 0.040 0.500 4 2008 2015
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.030 1.000 3 2014 2015
dbSNP: rs734312
rs734312
10 0.790 0.240 4 6301627 missense variant G/A snv 0.55 0.42 0.030 0.667 3 2005 2015
dbSNP: rs1789891
rs1789891
4 1.000 0.080 4 99329262 intron variant C/A snv 0.13 0.010 1.000 1 2015 2015
dbSNP: rs764165835
rs764165835
3 0.925 0.080 4 94299502 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs111365677
rs111365677
3 0.925 0.040 1 99463578 upstream gene variant T/C snv 2.3E-03 0.700 1.000 1 2016 2016
dbSNP: rs112106319
rs112106319
3 0.925 0.040 9 115094539 intron variant A/T snv 2.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs112538845
rs112538845
3 0.925 0.040 4 184084475 downstream gene variant C/T snv 1.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs113378111
rs113378111
3 1.000 0.040 2 9788024 intergenic variant G/A snv 2.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs114465512
rs114465512
3 1.000 0.040 22 22047895 intron variant C/T snv 4.7E-03 0.700 1.000 1 2016 2016
dbSNP: rs117198528
rs117198528
3 1.000 0.040 18 49694188 intergenic variant T/G snv 1.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs11924809
rs11924809
3 0.925 0.040 3 186353656 intron variant G/A snv 5.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs12068879
rs12068879
2 1.000 0.040 1 14959860 intron variant A/G snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs1322281
rs1322281
2 1.000 0.040 9 10582445 intron variant T/C snv 0.76 0.700 1.000 1 2016 2016
dbSNP: rs1375194
rs1375194
2 1.000 0.040 2 33601810 intron variant T/C snv 0.42 0.700 1.000 1 2016 2016
dbSNP: rs138472420
rs138472420
3 1.000 0.040 19 47657765 intron variant G/A snv 3.3E-03 0.700 1.000 1 2016 2016
dbSNP: rs141746753
rs141746753
3 1.000 0.040 8 56934154 intergenic variant C/T snv 3.1E-03 0.700 1.000 1 2016 2016