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: rs33983276
rs33983276
HBB
1 11 5225668 missense variant G/A;C;T snv 0.700 1.000 5 1969 2016
dbSNP: rs34563000
rs34563000
HBB
1 11 5227021 start lost T/C snv 0.700 1.000 5 1991 2011
dbSNP: rs35619054
rs35619054
HBB
1 11 5226745 frameshift variant -/AGAT delins 8.0E-06 0.700 1.000 4 1994 2013
dbSNP: rs63750513
rs63750513
HBB
1 11 5226801 splice acceptor variant T/C;G snv 1.2E-05; 8.0E-06; 1.6E-05; 4.0E-06 0.700 1.000 3 2003 2017
dbSNP: rs281864817
rs281864817
HBA2
1 16 172976 missense variant G/C;T snv 1.9E-05 0.010 1.000 1 2018 2018
dbSNP: rs281864853
rs281864853
HBA2
1 16 173244 missense variant C/A;T snv 0.010 1.000 1 1993 1993
dbSNP: rs281865475
rs281865475
HBB
1 11 5226657 frameshift variant G/- delins 0.700 1.000 1 2004 2004
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: rs34324664
rs34324664
HBA1
1 16 176780 missense variant G/A;C snv 6.1E-06; 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs281864581
rs281864581
HBB
1 11 5226941 missense variant C/A;G snv 0.700 0
dbSNP: rs33966761
rs33966761
HBB
1 11 5225638 missense variant A/C;G;T snv 3.2E-05 0.700 0
dbSNP: rs33991472
rs33991472
HBB
1 11 5226716 missense variant G/C;T snv 0.700 0
dbSNP: rs34160180
rs34160180
HBB
1 11 5226949 inframe deletion AAC/- delins 0.700 0
dbSNP: rs34165323
rs34165323
HBB
1 11 5226693 missense variant T/C snv 0.700 0
dbSNP: rs35395625
rs35395625
HBB
1 11 5226716 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs35693898
rs35693898
HBB
1 11 5226635 missense variant A/G 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 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: rs33949869
rs33949869
HBB
2 1.000 11 5225606 missense variant A/C;G;T snv 0.700 1.000 4 1975 1997
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: rs35383398
rs35383398
HBB
2 1.000 0.080 11 5226976 frameshift variant -/C delins 0.700 1.000 4 1988 2014
dbSNP: rs33929459
rs33929459
HBB
2 1.000 11 5226952 missense variant C/A;G;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: rs35485099
rs35485099
HBB
2 1.000 0.080 11 5225695 missense variant G/A;T snv 0.700 0