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: rs1554917947
rs1554917947
HBB
1 1.000 0.080 11 5226745 frameshift variant C/- del 0.700 0
dbSNP: rs1564875331
rs1564875331
HBB
4 0.882 0.120 11 5226724 frameshift variant CATAA/TGATGCC delins 0.700 0
dbSNP: rs1564875707
rs1564875707
HBB
1 1.000 0.080 11 5226905 splice donor variant CCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCG/- del 0.700 0
dbSNP: rs193922552
rs193922552
HBB
1 1.000 0.080 11 5227002 missense variant TC/AT mnv 0.700 0
dbSNP: rs267607291
rs267607291
HBB
1 1.000 0.080 11 5226774 frameshift variant GG/-;G delins 0.700 0
dbSNP: rs33922873
rs33922873
HBB
2 0.925 0.080 11 5226702 missense variant G/A;T snv 0.700 0
dbSNP: rs33980857
rs33980857
HBB
5 0.827 0.280 11 5227101 5 prime UTR variant A/C;G;T snv 0.700 0
dbSNP: rs33981098
rs33981098
HBB
5 0.827 0.280 11 5227102 5 prime UTR variant T/C;G snv 0.700 0
dbSNP: rs33994806
rs33994806
HBB
2 0.925 0.080 11 5227157 5 prime UTR variant G/A;C;T snv 0.700 0
dbSNP: rs34135787
rs34135787
HBB
1 1.000 0.080 11 5227039 splice region variant G/A;C snv 0.700 0
dbSNP: rs34704828
rs34704828
HBB
2 1.000 0.080 11 5227050 5 prime UTR variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs34809925
rs34809925
HBB
2 1.000 0.080 11 5225592 3 prime UTR variant G/A;C;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs35352549
rs35352549
HBB
1 1.000 0.080 11 5227062 5 prime UTR variant A/- delins 0.700 0
dbSNP: rs35485099
rs35485099
HBB
2 1.000 0.080 11 5225695 missense variant G/A;T snv 0.700 0
dbSNP: rs35684407
rs35684407
HBB
1 1.000 0.080 11 5226931 missense variant T/C;G snv 0.700 0
dbSNP: rs35703285
rs35703285
HBB
1 1.000 0.080 11 5225740 intron variant A/C snv 0.700 0
dbSNP: rs35894115
rs35894115
HBB
1 1.000 0.080 11 5226748 frameshift variant -/T delins 1.2E-05 0.700 1.000 7 1961 2011
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: rs33969677
rs33969677
HBB
2 0.925 0.080 11 5225714 missense variant C/A;G;T snv 0.700 1.000 5 1974 2013
dbSNP: rs33935445
rs33935445
HBB
2 0.925 0.080 11 5226978 missense variant A/C;G snv 0.010 1.000 1 1976 1976
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: 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: rs80356820
rs80356820
HBB
2 0.925 0.080 11 5226757 frameshift variant G/- delins 1.6E-05 0.700 1.000 7 1981 2015