Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3024505 0.790 0.320 1 206766559 upstream gene variant G/A snv 0.11 7
rs13194491 1.000 0.040 6 27069301 intergenic variant C/T snv 4.8E-02 4
rs8099917 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 1
rs1554544862
ANK1
1.000 0.040 8 41694003 frameshift variant TGGAACTTCCGGCGCCGGGG/- delins 1
rs662799
APOA5
0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 7
rs6568431
ATG5
0.790 0.320 6 106140931 intron variant A/C snv 0.61 3
rs121908117
ATRIP ; TREX1 ; ATRIP-TREX1
0.708 0.440 3 48466707 missense variant G/A snv 4
rs1934951
CYP2C8
0.925 0.160 10 95038791 intron variant C/T snv 0.24 1
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 2
rs1057520529
FOXP3
0.851 0.320 X 49251440 missense variant C/T snv 4
rs1057516674
G6PC
0.882 0.160 17 42901026 frameshift variant GT/- del 5
rs1050828
G6PD
0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 8
rs1050829
G6PD
0.827 0.160 X 154535277 missense variant T/A;C snv 1.7E-04; 2.6E-02 2
rs104894816
GATA1
0.827 0.120 X 48792377 missense variant A/G snv 4
rs104894808
GATA1
0.851 0.120 X 48792376 missense variant G/T snv 3
rs104894815
GATA1
0.776 0.120 X 48792337 missense variant G/A snv 3
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 11
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
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 1
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 26
rs33950507
HBB
0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 7