Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs33935445
HBB
0.925 0.080 11 5226978 missense variant A/C;G snv 2
rs33980857
HBB
0.827 0.280 11 5227101 5 prime UTR variant A/C;G;T snv 5
rs33941844
HBB
1.000 0.080 11 5225722 missense variant A/C;G;T snv 2
rs33951465
HBB
0.882 0.080 11 5226947 splice region variant A/C;T snv 4.0E-06 3
rs35256489
HBB
0.827 0.080 11 5225710 missense variant A/G snv 4.0E-06 2.1E-05 6
rs35724775
HBB
0.763 0.080 11 5226924 splice region variant A/G;T snv 1.2E-04 10
rs33978907
HBB
0.851 0.080 11 5225488 3 prime UTR variant A/G;T snv 4
rs33931779
HBB
1.000 0.080 11 5226710 stop lost A/G;T snv 1
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 32
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
rs33950507
HBB
0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 8
rs35424040
HBB
0.827 0.080 11 5226940 missense variant C/A;G;T snv 1.2E-05 6
rs980112
KLF10
0.882 0.080 8 102653285 intron variant C/A;T snv 3
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs11886868
BCL11A
0.752 0.280 2 60493111 intron variant C/T snv 0.65 12
rs769217
CAT
0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22 12
rs35004220
HBB
0.752 0.080 11 5226820 non coding transcript exon variant C/T snv 1.6E-04 9.1E-05 11
rs766814208
ENTPD1-AS1 ; ENTPD1
0.851 0.120 10 95823259 synonymous variant C/T snv 1.6E-05 2.8E-05 5
rs2236599
KLF4
0.882 0.080 9 107487224 non coding transcript exon variant C/T snv 0.18 0.15 3
rs34502690
HBB
1.000 0.080 11 5225657 inframe deletion CCT/- del 1
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs104894809
GATA1
0.790 0.120 X 48792371 missense variant G/A snv 9.5E-06 9
rs104894815
GATA1
0.776 0.120 X 48792337 missense variant G/A snv 9
rs3191333
KLF10
0.882 0.080 8 102649991 3 prime UTR variant G/A snv 0.31 3
rs63751208
HBB
0.925 0.080 11 5227172 5 prime UTR variant G/A snv 5.6E-05 2