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: 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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.917 12 2005 2017
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 0.667 3 2012 2017
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 0.667 3 2014 2017
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 0.933 15 2006 2018
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 0.800 15 2000 2019
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2007 2007
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.030 1.000 3 2004 2018
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2014 2017
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2014 2017
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2017 2017