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: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2006 2006
dbSNP: rs281864810
rs281864810
HBA2
2 0.925 0.080 16 172955 missense variant T/A;C snv 0.010 1.000 1 1984 1984
dbSNP: rs281864855
rs281864855
HBA2
2 0.925 0.080 16 173246 missense variant C/G;T snv 0.010 1.000 1 1979 1979
dbSNP: rs28928875
rs28928875
HBA1
2 0.925 0.080 16 177056 missense variant G/A;C snv 0.010 1.000 1 1979 1979
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: rs33964317
rs33964317
HBA1
3 0.925 0.080 16 176759 missense variant T/A;C;Y snv 1.7E-04 1.4E-05 0.010 1.000 1 1984 1984
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: rs3783613
rs3783613
VCAM1
6 0.851 0.200 1 100731231 missense variant G/A;C snv 4.0E-06; 9.9E-03 0.010 1.000 1 2015 2015
dbSNP: rs41479844
rs41479844
HBA2
2 0.925 0.080 16 173500 missense variant T/G snv 0.010 1.000 1 1990 1990
dbSNP: rs4671393
rs4671393
BCL11A
11 0.790 0.400 2 60493816 intron variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs63750022
rs63750022
HBB
2 0.925 0.080 11 5225662 frameshift variant A/- del 0.010 1.000 1 1992 1992
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