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: rs145905715
rs145905715
TUB ; RIC3
1 11 8100687 intron variant -/AT delins 3.5E-04 0.700 1.000 1 2012 2012
dbSNP: rs10692845
rs10692845
1 2 21070463 regulatory region variant -/GA;GACTCAAAGTACACATTTCCTAGA delins 0.69 0.700 1.000 1 2018 2018
dbSNP: rs147010738
rs147010738
1 13 72193030 intergenic variant -/GT;GTGT ins 0.700 1.000 1 2018 2018
dbSNP: rs3832016
rs3832016
4 1 109275536 3 prime UTR variant -/T ins 0.74 0.700 1.000 1 2012 2012
dbSNP: rs68055275
rs68055275
3 11 126369248 intron variant -/T;TT delins 0.700 1.000 1 2018 2018
dbSNP: rs145976573
rs145976573
1 10 45483784 intron variant -/TGTTAAGTCAAATAA;TGTTAAGTGAAATAA delins 0.700 1.000 1 2018 2018
dbSNP: rs145955280
rs145955280
2 1 92671973 intron variant A/-;AA;AAA delins 0.700 1.000 1 2018 2018
dbSNP: rs557933
rs557933
2 1 234717521 intron variant A/C snv 0.65 0.700 1.000 3 2015 2018
dbSNP: rs2740488
rs2740488
9 0.827 0.120 9 104899461 intron variant A/C snv 0.29 0.700 1.000 2 2015 2018
dbSNP: rs11597086
rs11597086
1 10 100193948 non coding transcript exon variant A/C snv 0.30 0.29 0.700 1.000 1 2012 2012
dbSNP: rs1469149
rs1469149
1 5 132073149 upstream gene variant A/C snv 0.39 0.700 1.000 1 2018 2018
dbSNP: rs16991720
rs16991720
4 21 34484464 intron variant A/C snv 0.700 1.000 1 2012 2012
dbSNP: rs17030613
rs17030613
7 1 112648185 intron variant A/C snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs1797912
rs1797912
3 1.000 0.040 3 12428740 intron variant A/C snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs2737229
rs2737229
1 8 115636338 intron variant A/C snv 0.48 0.800 1.000 1 2010 2010
dbSNP: rs2980853
rs2980853
16 0.851 0.120 8 125466108 upstream gene variant A/C snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs34515106
rs34515106
2 2 68380846 missense variant A/C snv 6.7E-03 1.9E-03 0.700 1.000 1 2012 2012
dbSNP: rs3858076
rs3858076
3 9 104893841 intron variant A/C snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs4665710
rs4665710
6 2 20998163 downstream gene variant A/C snv 0.76 0.700 1.000 1 2018 2018
dbSNP: rs496800
rs496800
2 1 234715469 intron variant A/C snv 0.65 0.700 1.000 1 2018 2018
dbSNP: rs556766
rs556766
1 9 35089051 3 prime UTR variant A/C snv 1.00 0.98 0.700 1.000 1 2012 2012
dbSNP: rs585967
rs585967
4 1.000 0.040 2 21047682 upstream gene variant A/C snv 0.81 0.700 1.000 1 2012 2012
dbSNP: rs6987225
rs6987225
1 8 97963444 intron variant A/C snv 8.7E-02 0.700 1.000 1 2011 2011
dbSNP: rs7203984
rs7203984
7 16 56965346 intron variant A/C snv 0.31 0.700 1.000 1 2012 2012
dbSNP: rs74551598
rs74551598
2 9 114415286 intron variant A/C snv 0.20 0.700 1.000 1 2018 2018