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: rs35619054
rs35619054
HBB
1 11 5226745 frameshift variant -/AGAT delins 8.0E-06 0.700 1.000 4 1994 2013
dbSNP: rs35383398
rs35383398
HBB
2 1.000 0.080 11 5226976 frameshift variant -/C delins 0.700 1.000 4 1988 2014
dbSNP: rs34856846
rs34856846
HBB
2 1.000 0.080 11 5226986 frameshift variant A/- delins 4.0E-06 0.700 1.000 4 1991 2017
dbSNP: rs63750532
rs63750532
HBB
3 0.925 0.080 11 5226780 frameshift variant A/- delins 0.700 1.000 3 1991 1997
dbSNP: rs35456885
rs35456885
HBB
3 0.925 0.080 11 5226814 non coding transcript exon variant A/C;G;T snv 0.700 1.000 5 1986 2014
dbSNP: rs33949869
rs33949869
HBB
2 1.000 11 5225606 missense variant A/C;G;T snv 0.700 1.000 4 1975 1997
dbSNP: rs33925391
rs33925391
HBB
4 0.882 0.080 11 5225662 missense variant A/C;G;T snv 4.0E-06 0.700 0
dbSNP: rs33966761
rs33966761
HBB
1 11 5225638 missense variant A/C;G;T snv 3.2E-05 0.700 0
dbSNP: rs36015961
rs36015961
HBB
3 0.925 0.080 11 5225698 missense variant A/G snv 0.710 1.000 4 1994 2002
dbSNP: rs35256489
rs35256489
HBB
6 0.827 0.080 11 5225710 missense variant A/G snv 4.0E-06 2.1E-05 0.010 1.000 1 1994 1994
dbSNP: rs35693898
rs35693898
HBB
1 11 5226635 missense variant A/G snv 0.700 0
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs41417446
rs41417446
HBB
2 1.000 0.080 11 5226763 inframe deletion AAA/- del 0.700 0
dbSNP: rs34160180
rs34160180
HBB
1 11 5226949 inframe deletion AAC/- delins 0.700 0
dbSNP: rs281864581
rs281864581
HBB
1 11 5226941 missense variant C/A;G snv 0.700 0
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 8 1984 2014
dbSNP: rs33950507
rs33950507
HBB
8 0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 0.700 1.000 7 1990 2011
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 1.000 5 1988 2014
dbSNP: rs3180281
rs3180281
HBA1
1 16 177048 missense variant C/A;G;T snv 0.010 1.000 1 1993 1993
dbSNP: rs33950093
rs33950093
HBB
1 11 5226958 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs33929459
rs33929459
HBB
2 1.000 11 5226952 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs33974936
rs33974936
HBB
3 0.925 0.080 11 5226778 stop gained C/A;T snv 0.700 1.000 11 1986 2011
dbSNP: rs34704828
rs34704828
HBB
2 1.000 0.080 11 5227050 5 prime UTR variant C/A;T snv 4.0E-06 0.700 1.000 9 1992 2010
dbSNP: rs33933298
rs33933298
HBB
2 1.000 0.080 11 5226597 missense variant C/A;T snv 4.0E-06 0.700 1.000 7 1972 2016
dbSNP: rs281864853
rs281864853
HBA2
1 16 173244 missense variant C/A;T snv 0.010 1.000 1 1993 1993