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: rs2414099
rs2414099
1 1.000 0.120 15 51256585 intron variant C/T snv 0.83 0.010 1.000 1 2012 2012
dbSNP: rs1267543
rs1267543
1 1.000 0.120 17 58579263 intron variant A/G snv 0.78 0.700 1.000 1 2013 2013
dbSNP: rs4931000
rs4931000
1 1.000 0.120 12 31988561 intron variant A/G snv 0.78 0.700 1.000 1 2017 2017
dbSNP: rs9905704
rs9905704
2 1.000 0.120 17 58555182 intron variant G/T snv 0.77 0.810 1.000 4 2013 2017
dbSNP: rs648090
rs648090
1 1.000 0.120 11 125201267 intron variant A/G snv 0.71 0.700 1.000 1 2017 2017
dbSNP: rs995030
rs995030
9 0.776 0.320 12 88496894 3 prime UTR variant A/G snv 0.67 0.720 1.000 5 2009 2019
dbSNP: rs7315956
rs7315956
1 1.000 0.120 12 70170085 intron variant A/G snv 0.66 0.700 1.000 1 2017 2017
dbSNP: rs3782181
rs3782181
4 0.882 0.120 12 88559784 intron variant C/A snv 0.65 0.700 1.000 2 2017 2017
dbSNP: rs11769858
rs11769858
1 1.000 0.120 7 158708801 upstream gene variant T/C snv 0.60 0.700 1.000 1 2017 2017
dbSNP: rs4888262
rs4888262
2 1.000 0.120 16 74636560 synonymous variant C/T snv 0.54 0.59 0.800 1.000 3 2013 2017
dbSNP: rs17021463
rs17021463
2 1.000 0.120 4 94303661 intron variant T/G snv 0.57 0.800 1.000 3 2013 2017
dbSNP: rs4624820
rs4624820
5 0.851 0.240 5 142302223 regulatory region variant G/A snv 0.55 0.810 1.000 6 2009 2017
dbSNP: rs755383
rs755383
7 0.807 0.120 9 863635 intron variant C/T snv 0.54 0.800 1.000 3 2013 2017
dbSNP: rs2978381
rs2978381
3 0.925 0.160 14 64299934 intron variant T/C snv 0.53 0.010 1.000 1 2012 2012
dbSNP: rs4240895
rs4240895
1 1.000 0.120 1 9653328 non coding transcript exon variant C/T snv 0.53 0.700 1.000 1 2017 2017
dbSNP: rs7010162
rs7010162
2 1.000 0.120 8 70064270 intron variant C/T snv 0.52 0.800 1.000 3 2013 2017
dbSNP: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.800 1.000 3 2013 2017
dbSNP: rs73019876
rs73019876
1 1.000 0.120 19 22085047 intron variant T/G snv 0.52 0.700 1.000 1 2017 2017
dbSNP: rs739525
rs739525
1 1.000 0.120 22 20978152 intron variant T/C snv 0.50 0.700 1.000 1 2017 2017
dbSNP: rs3805663
rs3805663
2 1.000 0.120 5 135030510 intron variant A/G snv 0.49 0.700 1.000 1 2013 2013
dbSNP: rs6060373
rs6060373
4 0.925 0.200 20 35326405 intron variant A/G snv 0.49 0.010 1.000 1 2011 2011
dbSNP: rs4471514
rs4471514
1 1.000 0.120 12 95273561 intron variant C/T snv 0.48 0.010 1.000 1 2012 2012
dbSNP: rs7568069
rs7568069
2 1.000 0.120 2 71357355 intron variant G/A snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs55637647
rs55637647
1 1.000 0.120 16 88482856 intron variant C/G snv 0.47 0.710 1.000 3 2015 2017
dbSNP: rs3755605
rs3755605
1 1.000 0.120 3 170038331 non coding transcript exon variant C/T snv 0.46 0.700 1.000 1 2017 2017