Disease: beta Thalassemia
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
rs11886868
BCL11A
0.752 0.280 2 60493111 intron variant C/T snv 0.65 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
rs35004220
HBB
0.752 0.080 11 5226820 non coding transcript exon variant C/T snv 1.6E-04 9.1E-05 11
rs35256489
HBB
0.827 0.080 11 5225710 missense variant A/G snv 4.0E-06 2.1E-05 6
rs34451549
HBB
0.851 0.080 11 5225923 intron variant G/A snv 4.9E-05 4
rs33960103
HBB
0.882 0.080 11 5226930 missense variant C/G;T snv 1.0E-04; 8.0E-06 3
rs193922555
HBB
0.925 0.080 11 5226641 frameshift variant C/- delins 2
rs34282684
HBB
0.925 0.080 11 5226688 frameshift variant AC/- delins 2