Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1188383936
F2
0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 102
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv 82
rs751377893
F5
0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 65
rs953038635
SOD2
0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 51
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 35
rs8175347
UGT1A9 ; UGT1A1 ; UGT1A6 ; UGT1A10 ; UGT1A8 ; UGT1A3 ; UGT1A5 ; UGT1A7 ; UGT1A4
0.708 0.400 2 233760234 intron variant TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA delins 16
rs1063320
HLA-G
0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv 12
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
rs33986703
HBB
0.752 0.080 11 5226970 stop gained T/A;C;G snv 5.6E-05; 3.2E-05 11
rs4671393
BCL11A
0.790 0.400 2 60493816 intron variant A/C;G snv 11
rs9494145 0.925 0.080 6 135111414 intergenic variant T/A;C snv 11
rs33945777
HBB
0.763 0.080 11 5226576 splice donor variant C/A;G;T snv 4.0E-05 10
rs33971440
HBB
0.763 0.080 11 5226929 splice donor variant C/A;T snv 7.2E-05; 9.5E-05 10
rs35724775
HBB
0.763 0.080 11 5226924 splice region variant A/G;T snv 1.2E-04 10
rs33950507
HBB
0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 8
rs1427407
BCL11A
0.827 0.120 2 60490908 intron variant T/C;G snv 6
rs33931746
HBB
0.807 0.280 11 5227099 5 prime UTR variant T/C;G snv 6
rs35424040
HBB
0.827 0.080 11 5226940 missense variant C/A;G;T snv 1.2E-05 6
rs3783613
VCAM1
0.851 0.200 1 100731231 missense variant G/A;C snv 4.0E-06; 9.9E-03 6
rs33930165
HBB
0.882 0.120 11 5227003 missense variant C/G;T snv 9.2E-04; 4.4E-05 5