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: rs112505971
rs112505971
13 10 27068541 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs13331259
rs13331259
14 16 249924 intron variant A/G snv 3.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs2853961
rs2853961
13 6 31264212 downstream gene variant G/A snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs3123543
rs3123543
13 1 212617344 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs334
rs334
HBB
35 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 1 2019 2019
dbSNP: rs3840870
rs3840870
13 17 50184820 3 prime UTR variant -/CTTG delins 0.700 1.000 1 2019 2019
dbSNP: rs4837892
rs4837892
13 9 121826025 intron variant G/T snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs7296503
rs7296503
13 12 41306962 intron variant C/T snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs76792961
rs76792961
13 16 243594 intron variant C/T snv 7.3E-03 0.700 1.000 1 2019 2019
dbSNP: rs9917425
rs9917425
13 20 16755400 intron variant G/T snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs1021479
rs1021479
2 16 85923808 upstream gene variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs10276619
rs10276619
3 1.000 0.080 7 50273756 downstream gene variant G/A snv 0.59 0.700 1.000 1 2018 2018
dbSNP: rs10987830
rs10987830
2 9 128016459 intergenic variant G/A snv 6.8E-03 0.700 1.000 1 2018 2018
dbSNP: rs114208039
rs114208039
2 6 31273862 intron variant A/G snv 0.700 1.000 1 2018 2018
dbSNP: rs115007843
rs115007843
2 4 82654059 intron variant A/C snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs117424492
rs117424492
2 15 79975053 upstream gene variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12149363
rs12149363
2 16 85895099 upstream gene variant C/G snv 7.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs12461821
rs12461821
2 19 6671358 upstream gene variant G/A;C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12898000
rs12898000
2 14 103368791 upstream gene variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2004925
rs2004925
2 14 24976156 intron variant G/A snv 0.52 0.700 1.000 1 2018 2018
dbSNP: rs2734037
rs2734037
2 3 128590041 intergenic variant C/T snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs35389394
rs35389394
2 8 129609008 intron variant C/T snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs3789087
rs3789087
2 2 111034076 intron variant C/T snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs4811020
rs4811020
2 20 50286497 downstream gene variant C/T snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs4843869
rs4843869
2 16 85941535 intron variant G/A snv 0.18 0.700 1.000 1 2018 2018