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: rs41464951
rs41464951
HBA2
2 0.925 0.080 16 173598 stop lost T/A;C;G snv 5.6E-05 0.700 1.000 7 1971 2010
dbSNP: rs11886868
rs11886868
BCL11A
12 0.752 0.280 2 60493111 intron variant C/T snv 0.65 0.010 1.000 1 2015 2015
dbSNP: rs122445108
rs122445108
ATRX
7 0.807 0.320 X 77717155 stop gained G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1265843445
rs1265843445
HBA1
2 0.925 0.080 16 177311 missense variant T/G snv 4.0E-06 0.010 1.000 1 1990 1990
dbSNP: rs1427407
rs1427407
BCL11A
6 0.827 0.120 2 60490908 intron variant T/C;G snv 0.010 1.000 1 2017 2017
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: rs1060339
rs1060339
HBA1
1 1.000 0.080 16 177040 missense variant C/A;G snv 2.9E-05 0.700 0
dbSNP: rs111033601
rs111033601
HBA2
1 1.000 0.080 16 173236 missense variant C/A;G;R snv 0.700 0
dbSNP: rs111033603
rs111033603
HBA2
1 1.000 0.080 16 172914 start lost T/C snv 0.700 0
dbSNP: rs11549407
rs11549407
HBB
11 0.752 0.080 11 5226774 stop gained G/A;C;T snv 3.3E-04 0.700 0
dbSNP: rs281864819
rs281864819
HBA2
1 1.000 0.080 16 172982 stop gained G/A;C;T snv 0.700 0
dbSNP: rs33915217
rs33915217
HBB
11 0.752 0.080 11 5226925 splice region variant C/A;G;T snv 4.0E-06; 5.9E-04; 4.0E-06 0.700 0
dbSNP: rs33941377
rs33941377
HBB
12 0.752 0.080 11 5227158 5 prime UTR variant G/A;C;T snv 0.700 0
dbSNP: rs33944208
rs33944208
HBB
12 0.752 0.080 11 5227159 5 prime UTR variant G/A;C;T snv 0.700 0
dbSNP: rs33945777
rs33945777
HBB
10 0.763 0.080 11 5226576 splice donor variant C/A;G;T snv 4.0E-05 0.700 0
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