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: rs1057519637
rs1057519637
HBA2
1 1.000 0.080 16 173003 frameshift variant AG/- delins 0.700 0
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
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: rs33987053
rs33987053
HBA2
1 1.000 0.080 16 173520 stop gained G/A;C;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs34598529
rs34598529
HBB
14 0.724 0.280 11 5227100 5 prime UTR variant T/C snv 8.9E-04 0.700 0
dbSNP: rs34690599
rs34690599
HBB
10 0.763 0.080 11 5225832 intron variant G/C snv 2.8E-05 0.700 0
dbSNP: rs35004220
rs35004220
HBB
11 0.752 0.080 11 5226820 non coding transcript exon variant C/T snv 1.6E-04 9.1E-05 0.700 0
dbSNP: rs35724775
rs35724775
HBB
10 0.763 0.080 11 5226924 splice region variant A/G;T snv 1.2E-04 0.700 0
dbSNP: rs41397847
rs41397847
HBA2
1 1.000 0.080 16 173548 missense variant T/A;C;G snv 5.6E-05; 8.0E-06 0.700 0
dbSNP: rs41474145
rs41474145
HBA2
1 1.000 0.080 16 173005 splice donor variant TGAGG/- delins 0.700 0
dbSNP: rs63751269
rs63751269
HBA2
1 1.000 0.080 16 173694 3 prime UTR variant A/C;G snv 0.700 0
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