Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs6934903 0.925 0.080 6 135130426 intergenic variant T/A snv 0.14 4
rs2236599
KLF4
0.882 0.080 9 107487224 non coding transcript exon variant C/T snv 0.18 0.15 3
rs3024731
PROZ
0.925 0.080 13 113164394 intron variant A/C;T snv 3
rs3191333
KLF10
0.882 0.080 8 102649991 3 prime UTR variant G/A snv 0.31 3
rs33951465
HBB
0.882 0.080 11 5226947 splice region variant A/C;T snv 4.0E-06 3
rs33960103
HBB
0.882 0.080 11 5226930 missense variant C/G;T snv 1.0E-04; 8.0E-06 3
rs34889882
HBB
0.882 0.080 11 5227004 frameshift variant AG/- del 7.0E-06 3
rs35497102
HBB
0.882 0.080 11 5226996 frameshift variant TT/- del 3
rs35699606
HBB
0.882 0.080 11 5226994 frameshift variant -/C delins 2.5E-04 6.3E-05 3
rs63749819
HBB
0.882 0.080 11 5227002 frameshift variant T/- del 1.6E-05 2.1E-05 3
rs63750532
HBB
0.925 0.080 11 5226780 frameshift variant A/- delins 3
rs63750783
HBB
0.882 0.080 11 5226975 stop gained C/T snv 8.8E-05 7.0E-06 3
rs7565301
BCL11A
1.000 0.080 2 60496131 intron variant G/A snv 0.25 3
rs80356821
HBB
0.882 0.080 11 5226763 frameshift variant AGAA/- delins 3
rs980112
KLF10
0.882 0.080 8 102653285 intron variant C/A;T snv 3
rs10172646
BCL11A
1.000 0.080 2 60493622 intron variant G/A snv 0.64 2
rs10195871
BCL11A
1.000 0.080 2 60493454 intron variant A/G;T snv 2
rs11968814 1.000 0.080 6 71067268 intergenic variant G/A snv 4.4E-02 2
rs1318772
MCC
1.000 0.080 5 113387870 intron variant A/G snv 0.18 2
rs1669539 1.000 0.080 2 105998818 intergenic variant T/C snv 7.1E-02 2
rs1896294
BCL11A
1.000 0.080 2 60491939 intron variant C/G;T snv 2
rs1896295
BCL11A
1.000 0.080 2 60496951 intron variant T/C snv 0.81 2
rs1896296
BCL11A
1.000 0.080 2 60496952 intron variant G/T snv 0.80 2
rs3024719
PROZ
0.925 0.080 13 113159911 intron variant G/A;T snv 2
rs3024735
PCID2 ; PROZ
0.925 0.080 13 113165199 intron variant G/A snv 0.19 2