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: 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: rs33987053
rs33987053
HBA2
1 1.000 0.080 16 173520 stop gained G/A;C;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs34598529
rs34598529
HBB
14 0.724 0.280 11 5227100 5 prime UTR variant T/C snv 8.9E-04 0.700 0
dbSNP: rs34690599
rs34690599
HBB
10 0.763 0.080 11 5225832 intron variant G/C snv 2.8E-05 0.700 0
dbSNP: rs35004220
rs35004220
HBB
11 0.752 0.080 11 5226820 non coding transcript exon variant C/T snv 1.6E-04 9.1E-05 0.700 0
dbSNP: rs35724775
rs35724775
HBB
10 0.763 0.080 11 5226924 splice region variant A/G;T snv 1.2E-04 0.700 0
dbSNP: rs41397847
rs41397847
HBA2
1 1.000 0.080 16 173548 missense variant T/A;C;G snv 5.6E-05; 8.0E-06 0.700 0
dbSNP: rs63751269
rs63751269
HBA2
1 1.000 0.080 16 173694 3 prime UTR variant A/C;G snv 0.700 0
dbSNP: rs66650371
rs66650371
HBS1L
3 0.925 0.080 6 135097495 intron variant CTA/-;CTACTA delins 0.19 0.010 1.000 1 2016 2016
dbSNP: rs1057519637
rs1057519637
HBA2
1 1.000 0.080 16 173003 frameshift variant AG/- delins 0.700 0
dbSNP: rs41474145
rs41474145
HBA2
1 1.000 0.080 16 173005 splice donor variant TGAGG/- delins 0.700 0
dbSNP: rs63750022
rs63750022
HBB
2 0.925 0.080 11 5225662 frameshift variant A/- del 0.010 1.000 1 1992 1992