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: rs524772
rs524772
2 3 150729892 downstream gene variant G/A snv 0.98 0.700 1.000 1 2019 2019
dbSNP: rs3108962
rs3108962
2 11 129895558 5 prime UTR variant A/G snv 0.98 0.700 1.000 1 2019 2019
dbSNP: rs34651
rs34651
5 1.000 0.040 5 72848178 non coding transcript exon variant C/T snv 0.94 0.700 1.000 1 2019 2019
dbSNP: rs11133613
rs11133613
2 5 1074936 intron variant A/G snv 0.91 0.700 1.000 2 2016 2017
dbSNP: rs7252007
rs7252007
2 19 10577081 intron variant T/C snv 0.90 0.700 1.000 1 2017 2017
dbSNP: rs9438901
rs9438901
2 1 25258485 intron variant G/A snv 0.89 0.700 1.000 1 2016 2016
dbSNP: rs1548770
rs1548770
2 14 74219855 intergenic variant C/T snv 0.88 0.700 1.000 1 2019 2019
dbSNP: rs2370823
rs2370823
2 12 54138553 intron variant G/A snv 0.88 0.700 1.000 1 2019 2019
dbSNP: rs2955088
rs2955088
4 3 128244867 intron variant C/T snv 0.86 0.700 1.000 1 2019 2019
dbSNP: rs634454
rs634454
2 9 108150874 regulatory region variant T/G snv 0.86 0.700 1.000 1 2019 2019
dbSNP: rs2275707
rs2275707
2 1 219914705 3 prime UTR variant C/A snv 0.85 0.700 1.000 1 2019 2019
dbSNP: rs778986
rs778986
3 1.000 0.080 19 5844526 missense variant A/G snv 0.84 0.84 0.700 1.000 1 2019 2019
dbSNP: rs4951378
rs4951378
4 1 203689654 intron variant A/G snv 0.83 0.700 1.000 1 2016 2016
dbSNP: rs6792151
rs6792151
2 3 171812145 upstream gene variant T/G snv 0.83 0.700 1.000 2 2016 2017
dbSNP: rs1419114
rs1419114
3 1 203683316 synonymous variant A/G snv 0.88 0.83 0.700 1.000 1 2019 2019
dbSNP: rs10900586
rs10900586
2 1 203684957 intron variant G/A snv 0.83 0.700 1.000 1 2017 2017
dbSNP: rs964184
rs964184
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.700 1.000 2 2016 2019
dbSNP: rs10883353
rs10883353
2 10 99496351 intergenic variant G/A snv 0.82 0.700 1.000 1 2019 2019
dbSNP: rs380267
rs380267
3 19 54295230 upstream gene variant G/A snv 0.82 0.700 1.000 1 2019 2019
dbSNP: rs35995659
rs35995659
2 14 58287055 intron variant -/TT ins 0.82 0.700 1.000 1 2017 2017
dbSNP: rs4703877
rs4703877
2 5 72430085 intergenic variant G/A snv 0.81 0.700 1.000 1 2019 2019
dbSNP: rs2016409
rs2016409
2 5 151746763 intron variant G/T snv 0.81 0.700 1.000 1 2019 2019
dbSNP: rs1029555
rs1029555
2 7 26547477 upstream gene variant T/C snv 0.80 0.700 1.000 1 2019 2019
dbSNP: rs12449852
rs12449852
3 1.000 0.080 17 39475835 intron variant A/G snv 0.79 0.700 1.000 1 2019 2019
dbSNP: rs1042034
rs1042034
15 0.851 0.240 2 21002409 missense variant C/T snv 0.70 0.78 0.700 1.000 1 2019 2019