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: rs139604259
rs139604259
1 1 25442718 intron variant -/A delins 0.58 0.700 1.000 1 2018 2018
dbSNP: rs66883945
rs66883945
1 6 138996690 regulatory region variant -/C;CC delins 0.700 1.000 1 2018 2018
dbSNP: rs112959129
rs112959129
1 7 73733661 upstream gene variant -/CA delins 0.700 1.000 1 2018 2018
dbSNP: rs201445483
rs201445483
2 2 17708820 intron variant -/GT delins 7.3E-05 0.700 1.000 1 2019 2019
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: rs34774090
rs34774090
1 19 11143211 intron variant A/- delins 0.77 0.700 1.000 1 2019 2019
dbSNP: rs145955280
rs145955280
2 1 92671973 intron variant A/-;AA;AAA delins 0.700 1.000 1 2018 2018
dbSNP: rs2294261
rs2294261
1 6 16108932 downstream gene variant A/C snv 0.65 0.700 1.000 2 2017 2019
dbSNP: rs16991720
rs16991720
4 21 34484464 intron variant A/C snv 0.700 1.000 1 2012 2012
dbSNP: rs17110429
rs17110429
2 5 149800331 intron variant A/C snv 3.5E-02 0.700 1.000 1 2012 2012
dbSNP: rs174574
rs174574
7 1.000 0.080 11 61832870 intron variant A/C snv 0.55 0.700 1.000 1 2016 2016
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: rs1826361
rs1826361
2 3 148726941 intron variant A/C snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs201148465
rs201148465
1 6 27867515 synonymous variant A/C snv 1.9E-04 1.7E-04 0.700 1.000 1 2017 2017
dbSNP: rs2650000
rs2650000
10 0.851 0.200 12 120951159 intron variant A/C snv 0.70 0.800 1.000 1 2009 2009
dbSNP: rs2740488
rs2740488
9 0.827 0.120 9 104899461 intron variant A/C snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs2819371
rs2819371
2 1 201946530 5 prime UTR variant A/C snv 0.92 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: rs557933
rs557933
2 1 234717521 intron variant A/C snv 0.65 0.700 1.000 1 2018 2018
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: rs72653060
rs72653060
1 2 21034825 missense variant A/C snv 9.9E-05 5.0E-04 0.700 1.000 1 2018 2018
dbSNP: rs74551598
rs74551598
2 9 114415286 intron variant A/C snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs7873387
rs7873387
1 9 104833321 intron variant A/C snv 0.20 0.700 1.000 1 2018 2018