Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs12979860
IFNL4
0.547 0.520 19 39248147 intron variant C/T snv 0.39 84
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
rs8099917 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 60
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 35
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 32
rs34598529
HBB
0.724 0.280 11 5227100 5 prime UTR variant T/C snv 8.9E-04 14
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
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
rs35004220
HBB
0.752 0.080 11 5226820 non coding transcript exon variant C/T snv 1.6E-04 9.1E-05 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
rs34690599
HBB
0.763 0.080 11 5225832 intron variant G/C snv 2.8E-05 10
rs35724775
HBB
0.763 0.080 11 5226924 splice region variant A/G;T snv 1.2E-04 10
rs63750953
HBB
0.790 0.400 11 5227097 5 prime UTR variant TT/- delins 7.0E-06 10
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
rs33950507
HBB
0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 8