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: rs9350591
rs9350591
2 0.925 0.040 6 75531811 intergenic variant C/A;T snv 0.12 0.710 1.000 3 2015 2019
dbSNP: rs10492367
rs10492367
3 0.882 0.040 12 27862037 regulatory region variant G/T snv 0.12 0.700 1.000 2 2018 2019
dbSNP: rs10843013
rs10843013
1 1.000 0.040 12 27872263 intergenic variant A/C snv 0.15 0.700 1.000 2 2018 2018
dbSNP: rs2785988
rs2785988
2 0.925 0.040 1 219570796 intergenic variant C/A snv 0.23 0.700 1.000 2 2018 2019
dbSNP: rs7222178
rs7222178
1 1.000 0.040 17 61574921 TF binding site variant T/A snv 0.26 0.700 1.000 2 2018 2019
dbSNP: rs11049193
rs11049193
1 1.000 0.040 12 27842114 intergenic variant G/T snv 0.27 0.700 1.000 1 2018 2018
dbSNP: rs11997261
rs11997261
2 0.925 0.040 8 8666851 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1913707
rs1913707
2 0.925 0.040 4 13037816 intergenic variant A/G snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs2820443
rs2820443
8 0.882 0.120 1 219580167 regulatory region variant T/C snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs2836618
rs2836618
1 1.000 0.040 21 38676371 intergenic variant G/A;T snv 0.25 0.700 1.000 1 2019 2019
dbSNP: rs2847212
rs2847212
2 0.925 0.040 11 60568491 intergenic variant C/T snv 0.78 0.700 1.000 1 2018 2018
dbSNP: rs2929451
rs2929451
1 1.000 0.040 8 9227785 intron variant A/T snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs34419890
rs34419890
1 1.000 0.040 11 66734153 upstream gene variant T/C snv 4.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs4979341
rs4979341
2 0.925 0.040 9 114143263 intergenic variant C/T snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs5009270
rs5009270
1 1.000 0.040 7 112519123 upstream gene variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs833058
rs833058
3 0.925 0.120 6 43764117 regulatory region variant C/T snv 0.53 0.010 1.000 1 2014 2014
dbSNP: rs7164503
rs7164503
2 0.925 0.040 15 68789051 intron variant T/C snv 0.27 0.010 1.000 1 2009 2009
dbSNP: rs34687269
rs34687269
1 1.000 0.040 9 116721853 intron variant A/T snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs4836732
rs4836732
2 1.000 0.040 9 116504416 intron variant C/T snv 0.49 0.700 1.000 2 2018 2019
dbSNP: rs13283416
rs13283416
2 1.000 0.040 9 116539328 intron variant T/G snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs3117582
rs3117582
14 0.716 0.440 6 31652743 intron variant T/G snv 7.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs80287694
rs80287694
1 1.000 0.040 6 55772142 intron variant A/G snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs62406718
rs62406718
2 0.925 0.040 5 180923167 intron variant A/C;G snv 0.74 0.700 1.000 1 2018 2018
dbSNP: rs12885713
rs12885713
5 0.827 0.200 14 90397013 intron variant C/A;G;T snv 0.010 < 0.001 1 2008 2008
dbSNP: rs752149020
rs752149020
2 0.925 0.040 2 47176459 missense variant G/A;C snv 4.0E-06 0.010 < 0.001 1 2008 2008