Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 19
rs80338701
PMM2
0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 13
rs190521996
PMM2
0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04 12
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 11
rs867593888
MYH9
0.882 0.200 22 36292059 missense variant T/C snv 11
rs4149056
SLCO1B1
0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 11
rs1556620697
SH2D1A ; STAG2
0.827 0.360 X 124365758 splice region variant C/G snv 10
rs138924661
DGKE ; TRIM25
0.807 0.120 17 56848773 stop gained G/A snv 9.1E-05 1.5E-04 9
rs1559810905
IFIH1
0.827 0.240 2 162273810 missense variant T/A snv 9
rs1554785242
ADAMTS13
0.882 0.160 9 133426240 missense variant G/T snv 8
rs1554791280
ADAMTS13
0.882 0.160 9 133442718 missense variant T/C snv 8
rs104894419
LIG4
0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 8
rs757788894
CLCN7
0.882 0.120 16 1449081 missense variant C/T snv 4.0E-06 6
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 6
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 5
rs1553196096
CDC42
1 22086463 missense variant G/A snv 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
rs146249964
MPL
0.851 0.080 1 43337929 splice donor variant T/A snv 4.0E-04 1.7E-04 5
rs397518423
PIK3CD
0.790 0.240 1 9726972 missense variant G/A snv 5
rs886043118
STAT1
0.925 0.040 2 191009916 frameshift variant T/- delins 5
rs1554162524
ELOVL4
0.882 0.160 6 79925034 splice acceptor variant T/C snv 4
rs104894816
GATA1
0.827 0.120 X 48792377 missense variant A/G snv 4
rs5030764
GP9
0.882 0.080 3 129061921 missense variant A/G snv 4.8E-04 7.4E-04 4