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: rs7086803
rs7086803
9 0.763 0.160 10 112738717 intron variant G/A snv 0.20 0.720 1.000 3 2012 2018
dbSNP: rs833061
rs833061
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.030 1.000 3 2014 2017
dbSNP: rs9295740
rs9295740
5 0.827 0.120 6 27721723 intergenic variant G/A snv 0.27 0.720 1.000 3 2008 2014
dbSNP: rs931794
rs931794
7 0.851 0.080 15 78533838 3 prime UTR variant G/A;C snv 0.030 1.000 3 2009 2015
dbSNP: rs938682
rs938682
7 0.851 0.080 15 78604205 intron variant G/A snv 0.72 0.710 1.000 3 2009 2016
dbSNP: rs1057519861
rs1057519861
15 0.776 0.080 7 55181398 missense variant T/A snv 0.020 1.000 2 2017 2019
dbSNP: rs1062980
rs1062980
8 0.827 0.080 15 78500185 3 prime UTR variant T/C snv 0.39 0.710 1.000 2 2009 2017
dbSNP: rs1235162
rs1235162
6 0.827 0.280 6 29569447 intron variant A/G snv 6.0E-02 0.700 1.000 2 2009 2012
dbSNP: rs12441998
rs12441998
3 0.925 0.080 15 78637030 intron variant G/A snv 0.63 0.700 1.000 2 2009 2012
dbSNP: rs1258159645
rs1258159645
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.020 0.500 2 2004 2006
dbSNP: rs12594247
rs12594247
3 0.925 0.080 15 78654291 intron variant C/T snv 0.14 0.700 1.000 2 2008 2012
dbSNP: rs12826786
rs12826786
26 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 0.020 0.500 2 2018 2018
dbSNP: rs12976445
rs12976445
20 0.689 0.600 19 51693200 non coding transcript exon variant T/C snv 0.45 0.020 1.000 2 2018 2019
dbSNP: rs13009079
rs13009079
3 0.882 0.080 2 174396420 intron variant T/C snv 0.26 0.020 1.000 2 2014 2016
dbSNP: rs1316971
rs1316971
3 0.925 0.080 15 78638168 intron variant A/G;T snv 0.62 0.700 1.000 2 2009 2012
dbSNP: rs1360485
rs1360485
16 0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58 0.020 1.000 2 2017 2018
dbSNP: rs1412125
rs1412125
17 0.724 0.360 13 30467458 intron variant C/G;T snv 0.020 1.000 2 2014 2018
dbSNP: rs156641
rs156641
3 0.882 0.080 19 48128151 intron variant C/T snv 0.29 0.020 0.500 2 2008 2015
dbSNP: rs174548
rs174548
17 0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv 0.710 1.000 2 2011 2017
dbSNP: rs17728461
rs17728461
9 0.776 0.120 22 30202563 intron variant C/G snv 0.25 0.720 1.000 2 2011 2015
dbSNP: rs1800469
rs1800469
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.020 1.000 2 2012 2019
dbSNP: rs1800625
rs1800625
39 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 0.020 1.000 2 2013 2017
dbSNP: rs1899663
rs1899663
22 0.683 0.280 12 53967210 intron variant C/A snv 0.28 0.020 0.500 2 2018 2018
dbSNP: rs1982073
rs1982073
32 0.649 0.640 19 41353016 missense variant G/A;C snv 0.020 1.000 2 2016 2019
dbSNP: rs2036527
rs2036527
12 0.851 0.080 15 78559273 regulatory region variant G/A snv 0.29 0.020 1.000 2 2010 2016