Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs12979860
IFNL4
0.547 0.520 19 39248147 intron variant C/T snv 0.39 84
rs8099917 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 60
rs662799
APOA5
0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 33
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
rs3811647
TF
0.807 0.120 3 133765185 intron variant G/A snv 0.31 15
rs7385804
TFR2
0.851 0.120 7 100638347 intron variant C/A snv 0.65 14
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
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
rs1555545033
THRA
0.807 0.160 17 40088306 missense variant C/T snv 7
rs267607201
KLF1
0.807 0.120 19 12885001 missense variant C/T snv 7
rs6568431
ATG5
0.790 0.320 6 106140931 intron variant A/C snv 0.61 7
rs104894816
GATA1
0.827 0.120 X 48792377 missense variant A/G snv 6
rs2245214
ATG5
0.827 0.240 6 106214866 intron variant C/G snv 0.42 6
rs5744256
IL18
0.827 0.120 11 112152125 intron variant A/G snv 0.16 6
rs1057516674
G6PC
0.882 0.160 17 42901026 frameshift variant GT/- del 5
rs1057520529
FOXP3
0.851 0.320 X 49251440 missense variant C/T snv 5
rs13194491 1.000 0.040 6 27069301 intergenic variant C/T snv 4.8E-02 5
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
rs104894808
GATA1
0.851 0.120 X 48792376 missense variant G/T snv 4