Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs964184
ZPR1
0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 38
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 34
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 31
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 26
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
rs887829
UGT1A8 ; UGT1A5 ; UGT1A6 ; UGT1A7 ; UGT1A4 ; UGT1A3 ; UGT1A10 ; UGT1A1 ; UGT1A9
0.763 0.280 2 233759924 intron variant C/T snv 0.36 12
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
rs34598529
HBB
0.724 0.280 11 5227100 5 prime UTR variant T/C snv 8.9E-04 11
rs35004220
HBB
0.752 0.080 11 5226820 non coding transcript exon variant C/T snv 1.6E-04 9.1E-05 11
rs11549407
HBB
0.752 0.080 11 5226774 stop gained G/A;C;T snv 3.3E-04 10
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
rs33986703
HBB
0.752 0.080 11 5226970 stop gained T/A;C;G snv 5.6E-05; 3.2E-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
rs9494145 0.925 0.080 6 135111414 intergenic variant T/A;C snv 9
rs1050828
G6PD
0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 8
rs9399137
HBS1L
0.851 0.320 6 135097880 intron variant T/C snv 0.20 8
rs662799
APOA5
0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 7
rs33950507
HBB
0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 7
rs7203560
NPRL3
1.000 0.080 16 134391 intron variant T/G snv 2.0E-02 7
rs10189857
BCL11A
1.000 0.080 2 60486100 intron variant A/G snv 0.42 6
rs7606173
BCL11A
1.000 0.080 2 60498316 intron variant G/C;T snv 0.39 5
rs766432
BCL11A
0.925 0.080 2 60492835 intron variant C/A snv 0.80 5