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
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 56
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 35
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 20
rs2306283
SLCO1B1
0.742 0.320 12 21176804 missense variant A/G;T snv 0.47 16
rs4149117
SLCO1B3-SLCO1B7 ; SLCO1B3
0.763 0.360 12 20858546 missense variant T/C;G snv 0.81 15
rs80338701
PMM2
0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 14
rs867593888
MYH9
0.882 0.200 22 36292059 missense variant T/C snv 11
rs1556620697
SH2D1A ; STAG2
0.827 0.360 X 124365758 splice region variant C/G snv 10
rs397518423
PIK3CD
0.790 0.240 1 9726972 missense variant G/A snv 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
rs61749397
VWF
0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06 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
rs483352867
STIM1
0.827 0.400 11 4074620 missense variant C/T snv 8
rs104894816
GATA1
0.827 0.120 X 48792377 missense variant A/G snv 6
rs724159947
ETV6
0.851 0.120 12 11869601 missense variant C/T snv 6
rs757788894
CLCN7
0.882 0.120 16 1449081 missense variant C/T snv 4.0E-06 6
rs121908065
CHRNE ; GP1BA
0.851 0.080 17 4933119 missense variant C/T snv 5
rs1553196096
CDC42
1 22086463 missense variant G/A snv 5
rs61749384
VWF
0.882 0.080 12 6019502 missense variant G/A snv 5
rs74315450
RUNX1
0.851 0.120 21 34859485 missense variant C/T 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