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: rs33941849
rs33941849
HBB
4 0.851 0.080 11 5227020 start lost A/C;G;T snv 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: rs63750475
rs63750475
HBB
1 1.000 0.080 11 5227018 frameshift variant C/- delins 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: rs63749819
rs63749819
HBB
3 0.882 0.080 11 5227002 frameshift variant T/- del 1.6E-05 2.1E-05 0.700 0
dbSNP: rs35497102
rs35497102
HBB
3 0.882 0.080 11 5226996 frameshift variant TT/- 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: rs34856846
rs34856846
HBB
2 1.000 0.080 11 5226986 frameshift variant A/- delins 4.0E-06 0.700 0
dbSNP: rs35383398
rs35383398
HBB
2 1.000 0.080 11 5226976 frameshift variant -/C 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: rs35662066
rs35662066
HBB
3 0.925 0.080 11 5226971 frameshift variant G/- del 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: rs35477349
rs35477349
HBB
1 1.000 0.080 11 5226942 frameshift variant -/A ins 0.700 0
dbSNP: rs35532010
rs35532010
HBB
4 0.882 0.080 11 5226937 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs35685286
rs35685286
HBB
1 1.000 0.080 11 5226933 missense variant C/T snv 0.010 1.000 1 2009 2009
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: rs63751076
rs63751076
HBB
1 1.000 0.080 11 5226903 splice donor variant ACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCA/- 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: rs1554918032
rs1554918032
HBB
1 1.000 0.080 11 5226800 splice acceptor variant CTAAGGGTGGGAAAATA/- del 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: rs193922563
rs193922563
HBB
2 0.925 0.080 11 5226797 splice acceptor variant GCCTAAGGGTGGGAAAATAGACCAA/-;GCCTAAGGGTGGGAAAATAGACCAAGCCTAAGGGTGGGAAAATAGACCAA delins 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: rs267607297
rs267607297
HBB
2 0.925 0.080 11 5226782 frameshift variant G/- delins 0.700 0