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: rs111645889
rs111645889
HBB
1 1.000 0.080 11 5225653 missense variant G/A;T snv 2.0E-05 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: rs33914668
rs33914668
HBB
2 0.925 0.080 11 5225728 splice acceptor variant T/C;G snv 8.0E-06 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: rs33922842
rs33922842
HBB
4 0.882 0.080 11 5226762 stop gained C/A;G;T snv 2.8E-04; 4.0E-06 0.700 0
dbSNP: rs33930165
rs33930165
HBB
5 0.882 0.120 11 5227003 missense variant C/G;T snv 9.2E-04; 4.4E-05 0.700 0
dbSNP: rs33931746
rs33931746
HBB
6 0.807 0.280 11 5227099 5 prime UTR variant T/C;G snv 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: rs33941849
rs33941849
HBB
4 0.851 0.080 11 5227020 start lost A/C;G;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: rs33946267
rs33946267
HBB
4 0.851 0.080 11 5225678 stop gained C/A;G;T snv 7.0E-04; 1.2E-05 0.700 0
dbSNP: rs33947415
rs33947415
HBB
3 0.882 0.120 11 5226684 missense variant C/G;T snv 9.4E-04 0.700 0
dbSNP: rs33950507
rs33950507
HBB
8 0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 0.700 0
dbSNP: rs33951465
rs33951465
HBB
3 0.882 0.080 11 5226947 splice region variant A/C;T snv 4.0E-06 0.700 0
dbSNP: rs33960103
rs33960103
HBB
3 0.882 0.080 11 5226930 missense variant C/G;T snv 1.0E-04; 8.0E-06 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: rs33978907
rs33978907
HBB
4 0.851 0.080 11 5225488 3 prime UTR variant A/G;T snv 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: rs34451549
rs34451549
HBB
4 0.851 0.080 11 5225923 intron variant G/A snv 4.9E-05 0.700 0
dbSNP: rs34483965
rs34483965
HBB
2 0.925 0.080 11 5225733 splice region variant G/A;C;T snv 4.0E-06; 4.0E-06 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: rs34889882
rs34889882
HBB
3 0.882 0.080 11 5227004 frameshift variant AG/- del 7.0E-06 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