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: rs11207997
rs11207997
6 1 62596235 intron variant C/T snv 0.39 0.010 1.000 1 2019 2019
dbSNP: rs12522383
rs12522383
2 5 111119568 intron variant G/A snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs132630331
rs132630331
GK
3 1.000 X 30707584 missense variant A/G snv 0.010 1.000 1 2003 2003
dbSNP: rs138850469
rs138850469
1 2 181678775 missense variant G/C snv 5.2E-05 4.2E-05 0.010 1.000 1 2005 2005
dbSNP: rs2073932
rs2073932
1 9 133440318 intron variant A/G snv 0.57 0.010 1.000 1 2018 2018
dbSNP: rs2074380
rs2074380
2 4 112432155 missense variant G/A;T snv 8.5E-03; 2.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs2074381
rs2074381
2 4 112432293 missense variant A/G snv 8.5E-03 5.5E-03 0.010 1.000 1 2013 2013
dbSNP: rs33929415
rs33929415
HBB
1 11 5225612 missense variant G/A;C;T snv 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs35810727
rs35810727
1 1 206112629 intron variant G/A;T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs536297956
rs536297956
1 13 25530064 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs652600
rs652600
1 9 133445896 intron variant G/A snv 0.66 0.010 1.000 1 2018 2018
dbSNP: rs7375036
rs7375036
1 3 38727881 intron variant T/C snv 6.4E-03 0.010 1.000 1 2017 2017
dbSNP: rs750521766
rs750521766
1 1 201389275 missense variant C/T snv 1.1E-04 3.5E-05 0.010 1.000 1 2007 2007
dbSNP: rs7712562
rs7712562
1 5 1295957 upstream gene variant A/G snv 0.88 0.010 1.000 1 2018 2018
dbSNP: rs9846911
rs9846911
2 3 187500548 intergenic variant A/G snv 0.47 0.010 1.000 1 2013 2013
dbSNP: rs587783675
rs587783675
1 11 17387104 missense variant A/G snv 0.700 0
dbSNP: rs1169305
rs1169305
2 1.000 0.040 12 120999579 missense variant A/G snv 1.00 0.99 0.020 1.000 2 2000 2002
dbSNP: rs10084572
rs10084572
3 1.000 0.040 21 43992991 downstream gene variant T/A;C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1013773109
rs1013773109
2 1.000 0.040 2 164497436 missense variant T/C snv 2.1E-05 0.010 1.000 1 2013 2013
dbSNP: rs10224210
rs10224210
9 1.000 0.040 7 151716108 intron variant T/C snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs1036915
rs1036915
2 1.000 0.040 9 84822934 intron variant A/G snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs1042488900
rs1042488900
2 1.000 0.040 1 161802188 synonymous variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1042615
rs1042615
2 1.000 0.040 12 63150429 missense variant A/C;G;T snv 0.60; 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs10484821
rs10484821
2 1.000 0.040 6 139547773 intron variant T/C snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs10497721
rs10497721
2 1.000 0.040 2 192049636 intron variant C/A;T snv 0.700 1.000 1 2007 2007