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 0.700 1.000 7 1990 2011
dbSNP: rs34563000
rs34563000
HBB
1 11 5227021 start lost T/C snv 0.700 1.000 5 1991 2011
dbSNP: rs35662066
rs35662066
HBB
3 0.925 0.080 11 5226971 frameshift variant G/- del 0.700 1.000 9 1984 2012
dbSNP: rs35619054
rs35619054
HBB
1 11 5226745 frameshift variant -/AGAT delins 8.0E-06 0.700 1.000 4 1994 2013
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: rs35532010
rs35532010
HBB
4 0.882 0.080 11 5226937 frameshift variant G/-;GG delins 0.700 1.000 7 1991 2014
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: 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: rs35383398
rs35383398
HBB
2 1.000 0.080 11 5226976 frameshift variant -/C delins 0.700 1.000 4 1988 2014
dbSNP: rs33941377
rs33941377
HBB
12 0.752 0.080 11 5227158 5 prime UTR variant G/A;C;T snv 0.700 1.000 14 1986 2016
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: rs33983276
rs33983276
HBB
1 11 5225668 missense variant G/A;C;T snv 0.700 1.000 5 1969 2016
dbSNP: rs33944208
rs33944208
HBB
12 0.752 0.080 11 5227159 5 prime UTR variant G/A;C;T snv 0.700 1.000 11 1984 2017
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: 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: 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