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: rs121912748
rs121912748
9 0.790 0.200 17 44253327 missense variant C/T snv 4.0E-05 2.1E-05 0.020 1.000 2 2007 2008
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2007 2007
dbSNP: rs104894809
rs104894809
9 0.790 0.120 X 48792371 missense variant G/A snv 9.5E-06 0.010 1.000 1 2002 2002
dbSNP: rs1283391088
rs1283391088
4 0.882 0.120 16 176755 synonymous variant C/T snv 1.4E-05 0.010 1.000 1 1993 1993
dbSNP: rs12979860
rs12979860
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs186590045
rs186590045
1 16 31528549 missense variant T/G snv 1.0E-04 3.5E-05 0.010 1.000 1 2010 2010
dbSNP: rs334
rs334
HBB
35 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.010 1.000 1 2007 2007
dbSNP: rs33950507
rs33950507
HBB
8 0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 0.010 1.000 1 2011 2011
dbSNP: rs368698783
rs368698783
1 11 5249833 5 prime UTR variant C/T snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs3760053
rs3760053
1 16 161244 intron variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs387906544
rs387906544
1 16 177072 missense variant C/G snv 0.010 1.000 1 2011 2011
dbSNP: rs41467944
rs41467944
1 16 172991 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs72661131
rs72661131
15 0.742 0.480 10 52771739 upstream gene variant A/G snv 7.6E-04 0.010 1.000 1 2015 2015
dbSNP: rs766432
rs766432
6 0.925 0.080 2 60492835 intron variant C/A snv 0.80 0.010 1.000 1 2013 2013
dbSNP: rs766814208
rs766814208
5 0.851 0.120 10 95823259 synonymous variant C/T snv 1.6E-05 2.8E-05 0.010 1.000 1 1993 1993
dbSNP: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs855791
rs855791
38 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs9399137
rs9399137
13 0.851 0.320 6 135097880 intron variant T/C snv 0.20 0.010 1.000 1 2011 2011