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: rs104894225
rs104894225
HBG2
1 1.000 0.080 11 5254380 missense variant A/G snv 0.010 1.000 1 1986 1986
dbSNP: rs1061234
rs1061234
HBG1
1 1.000 0.080 11 5249456 missense variant G/A snv 0.36 0.010 1.000 1 1986 1986
dbSNP: rs1222838633
rs1222838633
GGCT
1 1.000 0.080 7 30497816 missense variant T/C snv 1.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs35519485
rs35519485
HBB
1 1.000 0.080 11 5225719 missense variant C/A;T snv 0.010 1.000 1 1995 1995
dbSNP: rs35685286
rs35685286
HBB
1 1.000 0.080 11 5226933 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs11549407
rs11549407
HBB
11 0.752 0.080 11 5226774 stop gained G/A;C;T snv 3.3E-04 0.700 0
dbSNP: rs1554917888
rs1554917888
HBB
1 1.000 0.080 11 5226675 frameshift variant -/A delins 0.700 0
dbSNP: rs1554918032
rs1554918032
HBB
1 1.000 0.080 11 5226800 splice acceptor variant CTAAGGGTGGGAAAATA/- del 0.700 0
dbSNP: rs193922563
rs193922563
HBB
2 0.925 0.080 11 5226797 splice acceptor variant GCCTAAGGGTGGGAAAATAGACCAA/-;GCCTAAGGGTGGGAAAATAGACCAAGCCTAAGGGTGGGAAAATAGACCAA delins 0.700 0
dbSNP: rs267607297
rs267607297
HBB
2 0.925 0.080 11 5226782 frameshift variant G/- delins 0.700 0
dbSNP: rs281864901
rs281864901
HBB
2 0.925 0.080 11 5226662 frameshift variant G/- del 0.700 0
dbSNP: rs33913413
rs33913413
HBB
4 0.851 0.080 11 5225729 splice region variant G/A;C;T snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs33913712
rs33913712
HBB
1 1.000 0.080 11 5226621 stop gained C/A;T snv 0.700 0
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 0
dbSNP: rs33930702
rs33930702
HBB
1 1.000 0.080 11 5227019 start lost C/A;G;T snv 0.700 0
dbSNP: rs33941849
rs33941849
HBB
4 0.851 0.080 11 5227020 start lost A/C;G;T snv 0.700 0
dbSNP: rs33943001
rs33943001
HBB
2 0.925 0.080 11 5226800 splice acceptor variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs33945777
rs33945777
HBB
10 0.763 0.080 11 5226576 splice donor variant C/A;G;T snv 4.0E-05 0.700 0
dbSNP: rs33952266
rs33952266
HBB
2 0.925 0.080 11 5225727 splice acceptor variant C/A;G;T snv 7.2E-05 0.700 0
dbSNP: rs33969853
rs33969853
HBB
2 0.925 0.080 11 5226674 frameshift variant -/T delins 0.700 0
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 0
dbSNP: rs33974936
rs33974936
HBB
3 0.925 0.080 11 5226778 stop gained C/A;T snv 0.700 0
dbSNP: rs33982568
rs33982568
HBB
1 1.000 0.080 11 5226784 stop gained G/A;T snv 2.8E-05 0.700 0
dbSNP: rs33986703
rs33986703
HBB
11 0.752 0.080 11 5226970 stop gained T/A;C;G snv 5.6E-05; 3.2E-05 0.700 0
dbSNP: rs33995148
rs33995148
HBB
1 1.000 0.080 11 5226708 stop gained T/A;C;G snv 0.700 0