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: rs1283391088
rs1283391088
4 0.882 0.120 16 176755 synonymous variant C/T snv 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs33925391
rs33925391
HBB
4 0.882 0.080 11 5225662 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 1992 1992
dbSNP: rs33972047
rs33972047
HBB
4 0.851 0.080 11 5226963 missense variant T/C snv 0.010 1.000 1 1989 1989
dbSNP: rs34362537
rs34362537
HBB
1 1.000 0.080 11 5226677 missense variant A/G snv 0.010 1.000 1 1994 1994
dbSNP: rs35802118
rs35802118
HBB
2 0.925 0.080 11 5226967 missense variant C/A;T snv 0.010 1.000 1 1992 1992
dbSNP: rs63750022
rs63750022
HBB
2 0.925 0.080 11 5225662 frameshift variant A/- del 0.010 1.000 1 1992 1992
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2009 2009
dbSNP: rs9389268
rs9389268
6 1.000 0.080 6 135098493 intron variant A/G snv 0.24 0.010 1.000 1 2009 2009