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: rs41417446
rs41417446
HBB
2 1.000 0.080 11 5226763 inframe deletion AAA/- del 0.700 0
dbSNP: rs33974936
rs33974936
HBB
3 0.925 0.080 11 5226778 stop gained C/A;T snv 0.700 1.000 11 1986 2011
dbSNP: rs35662066
rs35662066
HBB
3 0.925 0.080 11 5226971 frameshift variant G/- del 0.700 1.000 9 1984 2012
dbSNP: rs33985472
rs33985472
HBB
3 0.925 0.080 11 5225485 3 prime UTR variant T/C snv 0.700 1.000 5 1991 2010
dbSNP: rs35456885
rs35456885
HBB
3 0.925 0.080 11 5226814 non coding transcript exon variant A/C;G;T snv 0.700 1.000 5 1986 2014
dbSNP: rs36015961
rs36015961
HBB
3 0.925 0.080 11 5225698 missense variant A/G snv 0.710 1.000 4 1994 2002
dbSNP: rs63750532
rs63750532
HBB
3 0.925 0.080 11 5226780 frameshift variant A/- delins 0.700 1.000 3 1991 1997
dbSNP: rs33924775
rs33924775
HBB
3 0.925 0.040 11 5226615 missense variant G/A;C;T snv 0.700 0
dbSNP: rs35532010
rs35532010
HBB
4 0.882 0.080 11 5226937 frameshift variant G/-;GG delins 0.700 1.000 7 1991 2014
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 1.000 5 1988 2014
dbSNP: rs33925391
rs33925391
HBB
4 0.882 0.080 11 5225662 missense variant A/C;G;T snv 4.0E-06 0.700 0
dbSNP: rs35424040
rs35424040
HBB
6 0.827 0.080 11 5226940 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 8 1984 2014
dbSNP: rs35256489
rs35256489
HBB
6 0.827 0.080 11 5225710 missense variant A/G snv 4.0E-06 2.1E-05 0.010 1.000 1 1994 1994
dbSNP: rs33950507
rs33950507
HBB
8 0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 0.700 1.000 7 1990 2011
dbSNP: rs33941377
rs33941377
HBB
12 0.752 0.080 11 5227158 5 prime UTR variant G/A;C;T snv 0.700 1.000 14 1986 2016
dbSNP: rs33944208
rs33944208
HBB
12 0.752 0.080 11 5227159 5 prime UTR variant G/A;C;T snv 0.700 1.000 11 1984 2017
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2000 2006