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: rs34332679
rs34332679
2 14 35412760 regulatory region variant -/A;AA delins 0.700 1.000 1 2016 2016
dbSNP: rs3831732
rs3831732
2 10 87895485 intron variant -/A;AA delins 0.700 1.000 1 2016 2016
dbSNP: rs58548501
rs58548501
4 4 54635119 intergenic variant -/A;ATTTTTTTTTA ins 0.43 0.700 1.000 1 2016 2016
dbSNP: rs79565040
rs79565040
1 1 8857339 downstream gene variant -/AT delins 0.43 0.700 1.000 1 2016 2016
dbSNP: rs145013566
rs145013566
5 2 218297998 intron variant -/C ins 0.700 1.000 1 2016 2016
dbSNP: rs540653847
rs540653847
2 6 31307016 intron variant -/C delins 4.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs397933924
rs397933924
5 10 97314229 upstream gene variant -/CAGGTTCAAGCGA ins 0.700 1.000 1 2016 2016
dbSNP: rs776509440
rs776509440
2 17 46096136 intron variant -/CTT;CTTT;CTTTT;CTTTTT;CTTTTTT;CTTTTTTT;CTTTTTTTT;CTTTTTTTTTT;CTTTTTTTTTTTTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs3840870
rs3840870
13 17 50184820 3 prime UTR variant -/CTTG delins 0.700 1.000 1 2019 2019
dbSNP: rs11428934
rs11428934
4 19 48640988 intron variant -/G ins 0.700 1.000 1 2016 2016
dbSNP: rs5833013
rs5833013
2 2 102352407 intron variant -/TA delins 0.700 1.000 1 2016 2016
dbSNP: rs10667251
rs10667251
4 0.925 0.080 17 49388381 intron variant -/TCT delins 0.47 0.700 1.000 1 2016 2016
dbSNP: rs11319879
rs11319879
2 10 92693719 intron variant A/- delins 0.53 0.700 1.000 1 2016 2016
dbSNP: rs3832566
rs3832566
1 8 105561297 intron variant A/- delins 0.29 0.700 1.000 1 2016 2016
dbSNP: rs70992176
rs70992176
1 2 147841722 upstream gene variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs75802552
rs75802552
2 4 122678167 intron variant A/- delins 0.35 0.700 1.000 1 2016 2016
dbSNP: rs1036332
rs1036332
3 1 199043349 intron variant A/C snv 0.70 0.700 1.000 1 2016 2016
dbSNP: rs11654074
rs11654074
5 17 59748211 intron variant A/C snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs12440045
rs12440045
6 0.925 0.080 15 41490486 upstream gene variant A/C snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs147453535
rs147453535
2 14 23117837 intron variant A/C snv 6.3E-03 6.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs2072735
rs2072735
2 1 9295413 intron variant A/C snv 0.76 0.700 1.000 1 2016 2016
dbSNP: rs3888187
rs3888187
1 11 307961 5 prime UTR variant A/C snv 0.60 0.700 1.000 1 2016 2016
dbSNP: rs56232812
rs56232812
4 1 27859995 intergenic variant A/C snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs741804
rs741804
1 10 87896399 intron variant A/C snv 3.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs778798
rs778798
1 19 5839602 5 prime UTR variant A/C snv 0.82 0.700 1.000 1 2016 2016