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: rs34451549
rs34451549
HBB
4 0.851 0.080 11 5225923 intron variant G/A snv 4.9E-05 0.700 0
dbSNP: rs34533941
rs34533941
HBB
1 1.000 0.080 11 5226608 frameshift variant -/CA delins 0.700 0
dbSNP: rs34856846
rs34856846
HBB
2 1.000 0.080 11 5226986 frameshift variant A/- delins 4.0E-06 0.700 0
dbSNP: rs34889882
rs34889882
HBB
3 0.882 0.080 11 5227004 frameshift variant AG/- del 7.0E-06 0.700 0
dbSNP: rs35225141
rs35225141
HBB
2 0.925 0.080 11 5225718 frameshift variant -/C delins 1.4E-05 0.700 0
dbSNP: rs35383398
rs35383398
HBB
2 1.000 0.080 11 5226976 frameshift variant -/C delins 0.700 0
dbSNP: rs35456885
rs35456885
HBB
3 0.925 0.080 11 5226814 non coding transcript exon variant A/C;G;T snv 0.700 0
dbSNP: rs35477349
rs35477349
HBB
1 1.000 0.080 11 5226942 frameshift variant -/A ins 0.700 0
dbSNP: rs35497102
rs35497102
HBB
3 0.882 0.080 11 5226996 frameshift variant TT/- del 0.700 0
dbSNP: rs35532010
rs35532010
HBB
4 0.882 0.080 11 5226937 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs35662066
rs35662066
HBB
3 0.925 0.080 11 5226971 frameshift variant G/- del 0.700 0
dbSNP: rs35699606
rs35699606
HBB
3 0.882 0.080 11 5226994 frameshift variant -/C delins 2.5E-04 6.3E-05 0.700 0
dbSNP: rs36107977
rs36107977
HBB
1 1.000 0.080 11 5226698 frameshift variant C/- delins 0.700 0
dbSNP: rs41443947
rs41443947
HBB
1 1.000 0.080 11 5225698 frameshift variant AG/C delins 0.700 0
dbSNP: rs63749819
rs63749819
HBB
3 0.882 0.080 11 5227002 frameshift variant T/- del 1.6E-05 2.1E-05 0.700 0
dbSNP: rs63750099
rs63750099
HBB
1 1.000 0.080 11 5226772 frameshift variant TGGGTCC/- delins 0.700 0
dbSNP: rs63750475
rs63750475
HBB
1 1.000 0.080 11 5227018 frameshift variant C/- delins 0.700 0
dbSNP: rs63750532
rs63750532
HBB
3 0.925 0.080 11 5226780 frameshift variant A/- delins 0.700 0
dbSNP: rs63750783
rs63750783
HBB
3 0.882 0.080 11 5226975 stop gained C/T snv 8.8E-05 7.0E-06 0.700 0
dbSNP: rs63751076
rs63751076
HBB
1 1.000 0.080 11 5226903 splice donor variant ACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCA/- delins 0.700 0
dbSNP: rs63751201
rs63751201
HBB
1 1.000 0.080 11 5225714 frameshift variant C/- del 0.700 0
dbSNP: rs63751218
rs63751218
HBB
1 1.000 0.080 11 5226671 frameshift variant TCACT/A delins 0.700 0
dbSNP: rs80356820
rs80356820
HBB
2 0.925 0.080 11 5226757 frameshift variant G/- delins 1.6E-05 0.700 0
dbSNP: rs80356821
rs80356821
HBB
3 0.882 0.080 11 5226763 frameshift variant AGAA/- delins 0.700 0