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: rs7103411
rs7103411
15 0.752 0.160 11 27678578 intron variant C/T snv 0.82 0.010 1.000 1 2012 2012
dbSNP: rs7124442
rs7124442
9 0.827 0.160 11 27655494 3 prime UTR variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs738499
rs738499
9 0.851 0.120 22 41381096 intron variant G/T snv 0.76 0.010 1.000 1 2012 2012
dbSNP: rs7582472
rs7582472
1 2 133887223 regulatory region variant T/C snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs9657182
rs9657182
6 0.851 0.280 8 39908329 intron variant C/G;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs11046205
rs11046205
2 12 21839392 intron variant G/A snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs161645
rs161645
2 1.000 0.040 5 104734216 intron variant A/G snv 0.77 0.010 1.000 1 2013 2013
dbSNP: rs17689882
rs17689882
2 17 45829462 intron variant G/A snv 0.14 0.010 1.000 1 2013 2013
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.020 1.000 2 2013 2014
dbSNP: rs10055255
rs10055255
2 1.000 0.040 5 76968168 intron variant A/T snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs110402
rs110402
12 0.790 0.120 17 45802681 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs11932595
rs11932595
12 0.827 0.160 4 55457430 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1876831
rs1876831
4 0.925 0.040 17 45830379 non coding transcript exon variant C/G;T snv 4.4E-06; 0.14 0.010 1.000 1 2014 2014
dbSNP: rs2229094
rs2229094
17 0.776 0.320 6 31572779 missense variant T/C snv 0.27 0.27 0.010 1.000 1 2014 2014
dbSNP: rs5440
rs5440
1 12 6839735 3 prime UTR variant A/G snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2014 2014
dbSNP: rs6314
rs6314
23 0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs6994992
rs6994992
13 0.790 0.120 8 31638065 upstream gene variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs6295
rs6295
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.030 1.000 3 2013 2015
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2015 2015
dbSNP: rs12137927
rs12137927
1 1 7811169 intron variant T/C snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs228644
rs228644
2 1.000 0.080 1 7806023 intron variant G/A snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs228682
rs228682
2 1 7796286 intron variant T/C snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs680244
rs680244
4 0.882 0.120 15 78578946 intron variant T/C snv 0.60 0.010 1.000 1 2015 2015