Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs122445108
ATRX
0.807 0.320 X 77717155 stop gained G/A snv 7
rs11886868
BCL11A
0.752 0.280 2 60493111 intron variant C/T snv 0.65 12
rs4671393
BCL11A
0.790 0.400 2 60493816 intron variant A/C;G snv 11
rs1427407
BCL11A
0.827 0.120 2 60490908 intron variant T/C;G snv 6
rs33964317
HBA1
0.925 0.080 16 176759 missense variant T/A;C;Y snv 1.7E-04 1.4E-05 3
rs1265843445
HBA1
0.925 0.080 16 177311 missense variant T/G snv 4.0E-06 2
rs28928875
HBA1
0.925 0.080 16 177056 missense variant G/A;C snv 2
rs1060339
HBA1
1.000 0.080 16 177040 missense variant C/A;G snv 2.9E-05 1
rs281864810
HBA2
0.925 0.080 16 172955 missense variant T/A;C snv 2
rs281864855
HBA2
0.925 0.080 16 173246 missense variant C/G;T snv 2
rs41464951
HBA2
0.925 0.080 16 173598 stop lost T/A;C;G snv 5.6E-05 2
rs41479844
HBA2
0.925 0.080 16 173500 missense variant T/G snv 2
rs1057519637
HBA2
1.000 0.080 16 173003 frameshift variant AG/- delins 1
rs111033601
HBA2
1.000 0.080 16 173236 missense variant C/A;G;R snv 1
rs111033603
HBA2
1.000 0.080 16 172914 start lost T/C snv 1
rs281864819
HBA2
1.000 0.080 16 172982 stop gained G/A;C;T snv 1
rs33987053
HBA2
1.000 0.080 16 173520 stop gained G/A;C;T snv 4.0E-06; 4.0E-06 1
rs41397847
HBA2
1.000 0.080 16 173548 missense variant T/A;C;G snv 5.6E-05; 8.0E-06 1
rs41474145
HBA2
1.000 0.080 16 173005 splice donor variant TGAGG/- delins 1
rs63751269
HBA2
1.000 0.080 16 173694 3 prime UTR variant A/C;G snv 1
rs34598529
HBB
0.724 0.280 11 5227100 5 prime UTR variant T/C snv 8.9E-04 14
rs33941377
HBB
0.752 0.080 11 5227158 5 prime UTR variant G/A;C;T snv 12
rs33944208
HBB
0.752 0.080 11 5227159 5 prime UTR variant G/A;C;T snv 12
rs11549407
HBB
0.752 0.080 11 5226774 stop gained G/A;C;T snv 3.3E-04 11
rs33915217
HBB
0.752 0.080 11 5226925 splice region variant C/A;G;T snv 4.0E-06; 5.9E-04; 4.0E-06 11