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: rs6704078
rs6704078
2 0.925 0.200 1 216437370 intergenic variant C/T snv 0.94 0.010 1.000 1 2019 2019
dbSNP: rs4787008
rs4787008
1 1.000 0.120 16 7365551 intron variant A/G snv 0.87 0.800 1.000 1 2011 2011
dbSNP: rs1048709
rs1048709
8 0.776 0.320 6 31947158 synonymous variant A/G snv 0.82 0.85 0.010 1.000 1 2013 2013
dbSNP: rs3818355
rs3818355
1 1.000 0.120 13 75622731 intron variant C/T snv 0.80 0.700 1.000 1 2013 2013
dbSNP: rs2328964
rs2328964
1 1.000 0.120 13 75564694 intron variant G/T snv 0.79 0.700 1.000 1 2013 2013
dbSNP: rs599019
rs599019
2 0.925 0.160 18 294495 intergenic variant C/A snv 0.78 0.010 1.000 1 2015 2015
dbSNP: rs7982517
rs7982517
1 1.000 0.120 13 75587903 intron variant A/G snv 0.77 0.700 1.000 1 2013 2013
dbSNP: rs4885323
rs4885323
1 1.000 0.120 13 75598278 intron variant C/T snv 0.77 0.700 1.000 1 2013 2013
dbSNP: rs7317250
rs7317250
1 1.000 0.120 13 75593005 intron variant G/A snv 0.77 0.700 1.000 1 2013 2013
dbSNP: rs4885322
rs4885322
1 1.000 0.120 13 75597195 intron variant A/G snv 0.77 0.700 1.000 1 2013 2013
dbSNP: rs3783028
rs3783028
1 1.000 0.120 13 75591146 intron variant T/C snv 0.77 0.700 1.000 1 2013 2013
dbSNP: rs7996884
rs7996884
1 1.000 0.120 13 75598608 intron variant T/A snv 0.77 0.700 1.000 1 2013 2013
dbSNP: rs6562915
rs6562915
1 1.000 0.120 13 75596750 intron variant G/T snv 0.77 0.700 1.000 1 2013 2013
dbSNP: rs7324195
rs7324195
1 1.000 0.120 13 75618386 intron variant G/A snv 0.77 0.700 1.000 1 2013 2013
dbSNP: rs7986566
rs7986566
1 1.000 0.120 13 75623795 intron variant C/T snv 0.77 0.700 1.000 1 2013 2013
dbSNP: rs899036
rs899036
2 0.925 0.160 11 41661360 intron variant G/T snv 0.77 0.010 1.000 1 2015 2015
dbSNP: rs1549758
rs1549758
7 0.807 0.360 7 150998638 synonymous variant T/C snv 0.76 0.76 0.010 1.000 1 2005 2005
dbSNP: rs1570360
rs1570360
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2017 2017
dbSNP: rs2070744
rs2070744
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2019 2019
dbSNP: rs3025021
rs3025021
4 0.882 0.160 6 43781426 non coding transcript exon variant T/C snv 0.70 0.010 1.000 1 2009 2009
dbSNP: rs1136287
rs1136287
8 0.790 0.280 17 1769982 missense variant C/T snv 0.61 0.69 0.010 1.000 1 2007 2007
dbSNP: rs2010963
rs2010963
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.040 0.750 4 2013 2017
dbSNP: rs2292239
rs2292239
13 0.742 0.480 12 56088396 intron variant T/G snv 0.65 0.010 1.000 1 2015 2015
dbSNP: rs4636297
rs4636297
14 0.724 0.360 9 136670698 intron variant A/G snv 0.67 0.65 0.010 1.000 1 2015 2015
dbSNP: rs202069793
rs202069793
1 1.000 0.120 9 104713014 intergenic variant GA/- delins 0.63 0.700 1.000 1 2019 2019