Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894815
GATA1
0.776 0.120 X 48792337 missense variant G/A snv 9
rs104894816
GATA1
0.827 0.120 X 48792377 missense variant A/G snv 6
rs104894808
GATA1
0.851 0.120 X 48792376 missense variant G/T snv 4
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 35
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 21
rs878853314
GBA
0.882 0.240 1 155239655 missense variant C/G snv 5
rs878853315
GBA
0.925 0.160 1 155236292 missense variant G/C snv 5
rs747506979
GBA
0.882 0.160 1 155235003 missense variant G/A snv 1.2E-05 4
rs1060499688
GNPTAB
0.882 0.200 12 101753399 missense variant A/G snv 4
rs368002262
GPI
1.000 0.040 19 34377778 missense variant G/A snv 1.2E-05 2.8E-05 1
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs4150558
GTF2H1
0.882 0.040 11 18332808 non coding transcript exon variant T/A snv 8.7E-03 3
rs41469945
HBA2
0.925 0.080 16 173581 missense variant T/C;G snv 3
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 35
rs33950507
HBB
0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 8
rs33950542
HBB
1.000 0.040 11 5226665 missense variant A/C;G snv 1
rs11549465
HIF1A-AS3 ; HIF1A
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs7072268
HK1
0.925 0.120 10 69340157 intron variant T/C snv 0.54 2
rs1559810905
IFIH1
0.827 0.240 2 162273810 missense variant T/A snv 9
rs12979860
IFNL4
0.547 0.520 19 39248147 intron variant C/T snv 0.39 84
rs987710
IGLV10-54
1.000 0.040 22 22158022 intron variant G/A snv 0.61 4
rs708567
IL17RC
0.807 0.200 3 9918386 missense variant C/T snv 0.46 0.51 6
rs6780995
IL17RD
0.925 0.080 3 57104391 missense variant G/A snv 0.62 0.64 2
rs5744256
IL18
0.827 0.120 11 112152125 intron variant A/G snv 0.16 6
rs1143634
IL1B
0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 52