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: rs3851179
rs3851179
15 0.752 0.280 11 86157598 downstream gene variant T/C snv 0.70 0.020 1.000 2 2015 2017
dbSNP: rs1187120
rs1187120
3 0.925 0.040 6 34182850 intergenic variant T/C snv 0.99 0.010 1.000 1 2015 2015
dbSNP: rs1334496
rs1334496
1 1.000 0.040 X 137178554 intergenic variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs227959
rs227959
1 1.000 0.040 17 3406923 upstream gene variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs4718789
rs4718789
2 0.925 0.120 7 68579188 intergenic variant C/T snv 8.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs4829605
rs4829605
1 1.000 0.040 X 137182822 intergenic variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs541458
rs541458
4 0.851 0.080 11 86077309 regulatory region variant C/T snv 0.71 0.010 1.000 1 2019 2019
dbSNP: rs543293
rs543293
3 0.925 0.080 11 86109035 regulatory region variant A/G snv 0.72 0.010 1.000 1 2016 2016
dbSNP: rs640476
rs640476
1 1.000 0.040 5 161277998 intergenic variant T/G snv 0.42 0.010 1.000 1 2018 2018
dbSNP: rs7895833
rs7895833
12 0.742 0.440 10 67863299 upstream gene variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs669
rs669
7 0.851 0.080 12 9079672 missense variant T/C snv 0.31 0.33 0.010 1.000 1 2000 2000
dbSNP: rs2230806
rs2230806
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.010 1.000 1 2017 2017
dbSNP: rs3764650
rs3764650
9 0.790 0.200 19 1046521 intron variant T/G snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs16947151
rs16947151
4 0.882 0.080 17 49213276 intron variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs2070600
rs2070600
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.020 1.000 2 2016 2019
dbSNP: rs5978930
rs5978930
4 0.882 0.080 X 8642266 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs104894103
rs104894103
6 0.807 0.280 9 32974495 stop gained C/G;T snv 4.0E-06; 1.6E-04 0.010 1.000 1 2005 2005
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.070 0.714 7 2008 2020
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.060 0.667 6 2008 2020
dbSNP: rs1451603364
rs1451603364
2 0.925 0.120 11 27658411 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs3756577
rs3756577
2 0.925 0.080 5 150249081 intron variant C/T snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs3822606
rs3822606
2 0.925 0.080 5 150261592 intron variant G/A snv 0.27 0.010 1.000 1 2016 2016
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1799864
rs1799864
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2018 2018
dbSNP: rs6598008
rs6598008
2 0.925 0.080 11 618172 intron variant A/G snv 0.48 0.010 1.000 1 2017 2017