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: rs3184504
rs3184504
24 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2012 2012
dbSNP: rs7574865
rs7574865
8 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.810 1.000 1 2012 2014
dbSNP: rs34536443
rs34536443
4 0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02 0.800 1.000 1 2012 2012
dbSNP: rs6897932
rs6897932
2 0.683 0.560 5 35874473 missense variant C/T snv 0.23 0.21 0.800 1.000 2 2011 2017
dbSNP: rs12232497
rs12232497
3 0.701 0.360 17 39883866 intergenic variant T/C snv 0.35 0.700 1.000 1 2012 2012
dbSNP: rs2304256
rs2304256
3 0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23 0.800 1.000 1 2012 2015
dbSNP: rs4728142
rs4728142
3 0.732 0.320 7 128933913 upstream gene variant G/A snv 0.38 0.700 1.000 1 2012 2012
dbSNP: rs7216389
rs7216389
3 0.732 0.440 17 39913696 intron variant C/T snv 0.60 0.700 1.000 1 2012 2012
dbSNP: rs10488631
rs10488631
7 0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02 0.800 1.000 4 2009 2015
dbSNP: rs767455
rs767455
1 0.742 0.400 12 6341779 synonymous variant T/C snv 0.37 0.40 0.700 1.000 1 2012 2012
dbSNP: rs8067378
rs8067378
6 0.752 0.240 17 39895095 regulatory region variant A/G snv 0.50 0.800 1.000 2 2012 2012
dbSNP: rs2872507
rs2872507
7 0.752 0.360 17 39884510 intergenic variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2305480
rs2305480
7 0.763 0.280 17 39905943 missense variant G/A snv 0.40 0.35 0.700 1.000 2 2012 2012
dbSNP: rs6478108
rs6478108
3 0.763 0.200 9 114796423 intron variant C/T snv 0.73 0.710 1.000 1 2012 2016
dbSNP: rs694739
rs694739
4 0.763 0.320 11 64329761 upstream gene variant A/G snv 0.28 0.800 1.000 1 2012 2012
dbSNP: rs1800693
rs1800693
2 0.776 0.360 12 6330843 non coding transcript exon variant T/C snv 0.36; 4.0E-06 0.38 0.800 1.000 2 2011 2015
dbSNP: rs3135363
rs3135363
4 0.776 0.360 6 32421871 intergenic variant A/G snv 0.24 0.800 1.000 1 2009 2009
dbSNP: rs3807306
rs3807306
3 0.776 0.320 7 128940626 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs9303277
rs9303277
4 0.790 0.240 17 39820216 intron variant C/T snv 0.52 0.800 1.000 3 2010 2017
dbSNP: rs12373124
rs12373124
3 0.790 0.120 17 45846853 synonymous variant T/C snv 0.15 0.14 0.700 1.000 1 2012 2012
dbSNP: rs1860545
rs1860545
1 0.790 0.200 12 6337611 intron variant G/A snv 0.31 0.700 1.000 1 2012 2012
dbSNP: rs2290400
rs2290400
6 0.790 0.360 17 39909987 intron variant T/C snv 0.48 0.700 1.000 1 2012 2012
dbSNP: rs4979462
rs4979462
2 0.790 0.240 9 114804733 intron variant C/T snv 0.13 0.830 1.000 1 2012 2019
dbSNP: rs7775055
rs7775055
2 0.790 0.200 6 32690139 TF binding site variant T/C snv 6.2E-02 0.700 1.000 1 2012 2012
dbSNP: rs7774434
rs7774434
5 0.807 0.360 6 32689801 TF binding site variant T/C snv 0.40 0.800 1.000 3 2010 2015