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: rs1548076
rs1548076
3 0.925 0.040 15 69934284 intergenic variant G/A snv 0.95 0.700 1.000 1 2016 2016
dbSNP: rs174697
rs174697
5 0.851 0.080 22 19966309 intron variant A/G snv 0.88 0.010 1.000 1 2012 2012
dbSNP: rs140504
rs140504
3 0.882 0.040 22 23285182 missense variant A/G snv 0.81 0.86 0.010 1.000 1 2005 2005
dbSNP: rs7973260
rs7973260
7 0.851 0.120 12 117937681 intron variant A/G snv 0.83 0.700 1.000 1 2016 2016
dbSNP: rs1488864
rs1488864
4 0.851 0.080 11 6321099 intron variant T/G snv 0.80 0.010 1.000 1 2017 2017
dbSNP: rs2199503
rs2199503
4 0.851 0.080 3 120059642 intron variant T/C snv 0.79 0.010 1.000 1 2015 2015
dbSNP: rs945032
rs945032
5 0.882 0.040 14 96204324 upstream gene variant T/C snv 0.78 0.010 1.000 1 2009 2009
dbSNP: rs2919375
rs2919375
3 0.925 0.040 8 32719327 intron variant G/A snv 0.77 0.010 1.000 1 2016 2016
dbSNP: rs9394309
rs9394309
4 0.851 0.040 6 35654004 intron variant G/A snv 0.74 0.010 1.000 1 2014 2014
dbSNP: rs1411216
rs1411216
3 0.925 0.040 9 24520196 intergenic variant A/G snv 0.73 0.700 1.000 1 2018 2018
dbSNP: rs1401635
rs1401635
4 0.925 0.040 11 27672444 intron variant C/G snv 0.73 0.010 1.000 1 2015 2015
dbSNP: rs7997012
rs7997012
11 0.807 0.080 13 46837850 intron variant A/G snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs3746544
rs3746544
10 0.790 0.120 20 10306436 3 prime UTR variant G/T snv 0.68 0.010 1.000 1 2015 2015
dbSNP: rs9296158
rs9296158
16 0.763 0.080 6 35599305 intron variant A/G snv 0.65 0.010 1.000 1 2014 2014
dbSNP: rs2137947
rs2137947
3 0.882 0.040 3 4989276 downstream gene variant C/T snv 0.64 0.010 1.000 1 2019 2019
dbSNP: rs2710117
rs2710117
3 0.882 0.040 7 147904680 intron variant T/A snv 0.63 0.010 1.000 1 2013 2013
dbSNP: rs1690818
rs1690818
2 0.925 0.040 11 99625823 intron variant C/T snv 0.61 0.700 1.000 1 2016 2016
dbSNP: rs12476147
rs12476147
4 0.851 0.040 2 184936178 missense variant A/T snv 0.66 0.59 0.010 1.000 1 2018 2018
dbSNP: rs4236710
rs4236710
3 0.882 0.040 8 32571241 intron variant C/T snv 0.58 0.010 1.000 1 2016 2016
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2011 2011
dbSNP: rs4761545
rs4761545
3 0.925 0.040 12 94032692 regulatory region variant G/T snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs4290270
rs4290270
17 0.724 0.320 12 72022455 synonymous variant A/T snv 0.57 0.55 0.010 1.000 1 2017 2017
dbSNP: rs6276
rs6276
8 0.807 0.320 11 113410675 3 prime UTR variant C/T snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs10233018
rs10233018
2 0.925 0.040 7 117883655 non coding transcript exon variant A/G snv 0.53 0.700 1.000 1 2016 2016
dbSNP: rs35792458
rs35792458
3 0.925 0.040 8 10964921 intron variant G/C snv 0.53 0.700 1.000 1 2018 2018