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: rs5030868
rs5030868
9 0.827 0.160 X 154534419 missense variant G/A snv 2.6E-03 4.8E-04 0.700 1.000 5 1988 2014
dbSNP: rs1050829
rs1050829
5 0.827 0.160 X 154535277 missense variant T/A;C snv 1.7E-04; 2.6E-02 0.700 0
dbSNP: rs11549407
rs11549407
HBB
11 0.752 0.080 11 5226774 stop gained G/A;C;T snv 3.3E-04 0.700 0
dbSNP: rs121912745
rs121912745
9 0.807 0.200 17 44255708 missense variant G/A;T snv 0.700 0
dbSNP: rs137852314
rs137852314
4 0.851 0.120 X 154534495 missense variant C/T snv 4.4E-05 5.7E-05 0.700 0
dbSNP: rs137852318
rs137852318
2 0.925 0.120 X 154533596 missense variant C/A;G;T snv 7.0E-04 0.700 0
dbSNP: rs137852327
rs137852327
3 0.882 0.120 X 154533122 missense variant C/T snv 2.2E-04 9.4E-05 0.700 0
dbSNP: rs3211893
rs3211893
3 0.925 0.080 7 80661212 splice donor variant T/A;C;G snv 4.0E-06; 5.5E-04; 4.0E-06; 1.0E-04 0.700 0
dbSNP: rs334
rs334
HBB
35 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 0
dbSNP: rs33915217
rs33915217
HBB
11 0.752 0.080 11 5226925 splice region variant C/A;G;T snv 4.0E-06; 5.9E-04; 4.0E-06 0.700 0
dbSNP: rs33941377
rs33941377
HBB
12 0.752 0.080 11 5227158 5 prime UTR variant G/A;C;T snv 0.700 0
dbSNP: rs33944208
rs33944208
HBB
12 0.752 0.080 11 5227159 5 prime UTR variant G/A;C;T snv 0.700 0
dbSNP: rs33945777
rs33945777
HBB
10 0.763 0.080 11 5226576 splice donor variant C/A;G;T snv 4.0E-05 0.700 0
dbSNP: rs33971440
rs33971440
HBB
10 0.763 0.080 11 5226929 splice donor variant C/A;T snv 7.2E-05; 9.5E-05 0.700 0
dbSNP: rs33986703
rs33986703
HBB
11 0.752 0.080 11 5226970 stop gained T/A;C;G snv 5.6E-05; 3.2E-05 0.700 0
dbSNP: rs34598529
rs34598529
HBB
14 0.724 0.280 11 5227100 5 prime UTR variant T/C snv 8.9E-04 0.700 0
dbSNP: rs34690599
rs34690599
HBB
10 0.763 0.080 11 5225832 intron variant G/C snv 2.8E-05 0.700 0
dbSNP: rs35004220
rs35004220
HBB
11 0.752 0.080 11 5226820 non coding transcript exon variant C/T snv 1.6E-04 9.1E-05 0.700 0
dbSNP: rs35724775
rs35724775
HBB
10 0.763 0.080 11 5226924 splice region variant A/G;T snv 1.2E-04 0.700 0
dbSNP: rs414171
rs414171
9 0.790 0.200 3 50612068 5 prime UTR variant A/G;T snv 0.700 0
dbSNP: rs5030869
rs5030869
4 0.882 0.120 X 154532990 missense variant C/A;T snv 5.5E-06; 1.9E-04 6.6E-05 0.700 0
dbSNP: rs72554664
rs72554664
3 0.882 0.160 X 154532257 missense variant C/T snv 5.5E-04 1.1E-04 0.700 0
dbSNP: rs766920034
rs766920034
1 1.000 7 80669986 frameshift variant -/C delins 4.0E-06; 4.0E-06; 2.8E-05 0.700 0