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: 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: 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: rs2753960
rs2753960
2 6 31795067 missense variant G/T snv 0.43 0.36 0.700 1.000 1 2016 2016
dbSNP: rs708727
rs708727
2 1 205798757 synonymous variant G/A snv 0.30 0.29 0.700 1.000 1 2016 2016
dbSNP: rs3931
rs3931
2 2 168864871 synonymous variant A/G snv 4.0E-06; 0.27 0.25 0.700 1.000 1 2016 2016
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: rs1042133
rs1042133
2 6 33080829 missense variant G/C snv 0.14 0.15 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: rs35493131
rs35493131
ERF
2 19 42248882 synonymous variant A/G snv 9.7E-02 8.9E-02 0.700 1.000 1 2016 2016
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: 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: rs61745454
rs61745454
5 5 151187456 missense variant A/G snv 3.7E-02 4.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs1805106
rs1805106
2 13 27968824 synonymous variant C/G snv 2.9E-02 2.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs34599082
rs34599082
8 1 159205704 missense variant C/T snv 1.1E-02 9.9E-03 0.700 1.000 1 2016 2016
dbSNP: rs143034248
rs143034248
7 11 118210555 missense variant C/T snv 4.0E-03 3.5E-03 0.700 1.000 1 2016 2016
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: 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: rs140221307
rs140221307
2 22 17105867 missense variant T/C snv 1.7E-03 2.3E-03 0.700 1.000 1 2016 2016
dbSNP: rs10980800
rs10980800
3 9 111153625 intron variant T/C snv 0.21 0.700 1.000 3 2011 2017
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: rs2124440
rs2124440
2 2 181463487 intron variant G/A snv 0.55 0.700 1.000 3 2013 2017
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
dbSNP: rs10980797
rs10980797
3 9 111150273 intron variant A/G;T snv 0.700 1.000 2 2016 2018
dbSNP: rs1892548
rs1892548
2 13 40428504 intron variant T/A;C snv 0.700 1.000 2 2016 2018
dbSNP: rs1991866
rs1991866
3 8 129611859 intron variant G/A;C snv 0.700 1.000 2 2014 2017