Source: ALL
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: rs33950507
rs33950507
HBB
8 0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 0.810 1.000 17 1980 2017
dbSNP: rs33925391
rs33925391
HBB
4 0.882 0.080 11 5225662 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 13 1981 2013
dbSNP: rs11549407
rs11549407
HBB
11 0.752 0.080 11 5226774 stop gained G/A;C;T snv 3.3E-04 0.710 1.000 11 1981 2015
dbSNP: rs33986703
rs33986703
HBB
11 0.752 0.080 11 5226970 stop gained T/A;C;G snv 5.6E-05; 3.2E-05 0.710 1.000 10 1979 2015
dbSNP: rs63751208
rs63751208
HBB
2 0.925 0.080 11 5227172 5 prime UTR variant G/A snv 5.6E-05 0.700 1.000 22 1989 2015
dbSNP: rs33941849
rs33941849
HBB
4 0.851 0.080 11 5227020 start lost A/C;G;T snv 0.700 1.000 21 1990 2017
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 1.000 21 1968 2017
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 1.000 18 1983 2013
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 1.000 18 1989 2016
dbSNP: rs193922555
rs193922555
HBB
2 0.925 0.080 11 5226641 frameshift variant C/- delins 0.700 1.000 15 1989 2015
dbSNP: rs33944208
rs33944208
HBB
12 0.752 0.080 11 5227159 5 prime UTR variant G/A;C;T snv 0.700 1.000 15 1984 2017
dbSNP: rs35724775
rs35724775
HBB
10 0.763 0.080 11 5226924 splice region variant A/G;T snv 1.2E-04 0.700 1.000 14 1982 2015
dbSNP: rs80356821
rs80356821
HBB
3 0.882 0.080 11 5226763 frameshift variant AGAA/- delins 0.700 1.000 14 1983 2015
dbSNP: rs33931746
rs33931746
HBB
6 0.807 0.280 11 5227099 5 prime UTR variant T/C;G snv 0.700 1.000 13 1982 2014
dbSNP: rs35225141
rs35225141
HBB
2 0.925 0.080 11 5225718 frameshift variant -/C delins 1.4E-05 0.700 1.000 13 1987 2013
dbSNP: rs33945777
rs33945777
HBB
10 0.763 0.080 11 5226576 splice donor variant C/A;G;T snv 4.0E-05 0.700 1.000 11 1982 2015
dbSNP: rs34527846
rs34527846
HBB
1 1.000 0.080 11 5226802 splice region variant A/C;G;T snv 8.0E-06; 1.6E-05; 4.0E-06 0.700 1.000 11 1989 2015
dbSNP: rs34598529
rs34598529
HBB
14 0.724 0.280 11 5227100 5 prime UTR variant T/C snv 8.9E-04 0.700 1.000 11 1984 2015
dbSNP: rs33914668
rs33914668
HBB
2 0.925 0.080 11 5225728 splice acceptor variant T/C;G snv 8.0E-06 0.700 1.000 10 1984 2013
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 1.000 10 1983 2015
dbSNP: rs334
rs334
HBB
35 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 9 1984 2012
dbSNP: rs35424040
rs35424040
HBB
6 0.827 0.080 11 5226940 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 9 1982 2014
dbSNP: rs281864901
rs281864901
HBB
2 0.925 0.080 11 5226662 frameshift variant G/- del 0.700 1.000 8 1988 2015
dbSNP: rs33941377
rs33941377
HBB
12 0.752 0.080 11 5227158 5 prime UTR variant G/A;C;T snv 0.700 1.000 8 1988 2014
dbSNP: rs33969853
rs33969853
HBB
2 0.925 0.080 11 5226674 frameshift variant -/T delins 0.700 1.000 8 1984 2014