Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1127354
ITPA
0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 26
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 21
rs121908117
ATRIP ; TREX1 ; ATRIP-TREX1
0.708 0.440 3 48466707 missense variant G/A snv 17
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 15
rs1050828
G6PD
0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 15
rs3811647
TF
0.807 0.120 3 133765185 intron variant G/A snv 0.31 15
rs559063155
SF3B1
0.732 0.280 2 197402110 stop gained T/A;C;G snv 9.0E-05 14
rs7385804
TFR2
0.851 0.120 7 100638347 intron variant C/A snv 0.65 14
rs7530511
IL23R ; C1orf141
0.742 0.400 1 67219704 missense variant T/A;C snv 0.88 12
rs1114167422
SNORA56 ; DKC1
0.776 0.320 X 154773148 missense variant A/G snv 11
rs3024505 0.790 0.320 1 206766559 upstream gene variant G/A snv 0.11 10
rs7270101
ITPA
0.776 0.200 20 3213247 intron variant A/C snv 8.7E-02 9.7E-02 10
rs104894815
GATA1
0.776 0.120 X 48792337 missense variant G/A snv 9
rs1559810905
IFIH1
0.827 0.240 2 162273810 missense variant T/A snv 9
rs11568350
SLC40A1
0.790 0.240 2 189565370 missense variant C/A snv 3.8E-03 1.6E-02 9
rs28940298
VHL
0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 9
rs33950507
HBB
0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 8
rs6568431
ATG5
0.790 0.320 6 106140931 intron variant A/C snv 0.61 7
rs267607201
KLF1
0.807 0.120 19 12885001 missense variant C/T snv 7
rs1555545033
THRA
0.807 0.160 17 40088306 missense variant C/T snv 7
rs2245214
ATG5
0.827 0.240 6 106214866 intron variant C/G snv 0.42 6
rs104894816
GATA1
0.827 0.120 X 48792377 missense variant A/G snv 6
rs708567
IL17RC
0.807 0.200 3 9918386 missense variant C/T snv 0.46 0.51 6
rs5744256
IL18
0.827 0.120 11 112152125 intron variant A/G snv 0.16 6