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: rs3732378
rs3732378
48 0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12 0.700 1.000 1 2016 2016
dbSNP: rs1799864
rs1799864
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.700 1.000 1 2016 2016
dbSNP: rs653178
rs653178
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs2814778
rs2814778
24 0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 0.700 1.000 2 2017 2019
dbSNP: rs1800973
rs1800973
LYZ
9 0.827 0.320 12 69350234 missense variant C/A snv 4.2E-02 4.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs4149577
rs4149577
7 0.827 0.280 12 6338356 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12075
rs12075
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.700 1.000 1 2016 2016
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: rs34557412
rs34557412
15 0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03 0.700 1.000 1 2016 2016
dbSNP: rs687621
rs687621
ABO
18 0.851 0.240 9 133261662 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs913678
rs913678
6 0.882 0.240 20 50338887 regulatory region variant T/C snv 0.51 0.700 1.000 1 2016 2016
dbSNP: rs2239630
rs2239630
6 0.925 0.160 14 23120140 upstream gene variant A/C;G snv 0.700 1.000 2 2016 2018
dbSNP: rs2228468
rs2228468
6 0.882 0.120 3 42865620 missense variant A/C;T snv 0.43; 8.3E-03 0.700 1.000 3 2013 2018
dbSNP: rs2292982
rs2292982
3 1.000 0.120 16 85911217 intron variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs687289
rs687289
ABO
15 1.000 0.120 9 133261703 intron variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1449263
rs1449263
5 1.000 0.080 2 181454574 upstream gene variant C/T snv 0.56 0.700 1.000 3 2011 2018
dbSNP: rs2228467
rs2228467
8 1.000 0.080 3 42864624 missense variant T/C snv 5.1E-02 4.7E-02 0.700 1.000 2 2013 2016
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: rs117758012
rs117758012
3 1.000 0.080 19 12846836 intron variant C/T snv 4.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs12711490
rs12711490
4 0.925 0.080 16 85939422 intron variant T/C snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs2632516
rs2632516
3 1.000 0.080 17 58331728 non coding transcript exon variant G/A;C snv 0.51 0.700 1.000 1 2016 2016
dbSNP: rs34097845
rs34097845
MPO
4 1.000 0.080 17 58281068 upstream gene variant C/T snv 4.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs6584283
rs6584283
12 0.776 0.080 10 99530544 intron variant T/C snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs730775
rs730775
3 1.000 0.080 6 44264337 intron variant A/G snv 0.36 0.700 1.000 1 2016 2016
dbSNP: rs9880192
rs9880192
5 1.000 0.040 3 128578726 upstream gene variant G/A;C snv 0.31 0.700 1.000 3 2011 2017