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: rs1998848
rs1998848
3 1.000 0.040 14 21024070 5 prime UTR variant G/A snv 1.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs2040771
rs2040771
3 22 19174422 downstream gene variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2072510
rs2072510
2 12 96009421 non coding transcript exon variant G/A snv 0.49 0.700 1.000 1 2016 2016
dbSNP: rs2079742
rs2079742
9 0.851 0.240 17 61388336 non coding transcript exon variant T/C snv 0.20 0.700 1.000 1 2016 2016
dbSNP: rs2169387
rs2169387
6 8 9323885 intron variant A/G snv 0.87 0.700 1.000 1 2016 2016
dbSNP: rs2731672
rs2731672
6 5 177415473 intron variant T/C snv 0.66 0.700 1.000 1 2016 2016
dbSNP: rs28929474
rs28929474
37 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs2921604
rs2921604
2 5 14867839 intron variant T/C snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs34226052
rs34226052
2 4 88242371 intergenic variant A/G snv 0.22 0.700 1.000 1 2016 2016
dbSNP: rs3733402
rs3733402
5 1.000 0.040 4 186236880 missense variant G/A;C snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs4554975
rs4554975
2 12 46808031 intron variant A/G snv 0.47 0.700 1.000 1 2016 2016
dbSNP: rs560887
rs560887
18 0.827 0.120 2 168906638 intron variant T/C snv 0.79 0.80 0.700 1.000 1 2016 2016
dbSNP: rs58101275
rs58101275
1 14 103542083 regulatory region variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs61524473
rs61524473
2 15 45354085 downstream gene variant T/C snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs7078003
rs7078003
3 10 97599655 non coding transcript exon variant C/T snv 0.14 0.14 0.700 1.000 1 2016 2016
dbSNP: rs74249229
rs74249229
2 16 69945368 downstream gene variant C/T snv 4.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs75950518
rs75950518
1 16 70345014 intron variant C/T snv 8.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs7678928
rs7678928
2 4 88301675 intron variant C/T snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs77303550
rs77303550
6 16 72045758 intron variant C/T snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs7954638
rs7954638
2 12 95921017 intron variant C/A snv 0.53 0.700 1.000 1 2016 2016
dbSNP: rs878521
rs878521
3 7 44216044 downstream gene variant G/A snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs9637599
rs9637599
3 4 88285078 intron variant A/C snv 0.56 0.700 1.000 1 2016 2016
dbSNP: rs10172053
rs10172053
2 2 210779923 intergenic variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs10437868
rs10437868
2 12 77508538 intron variant T/C snv 9.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs116267673
rs116267673
2 22 18902454 upstream gene variant C/A snv 0.700 1.000 1 2019 2019