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
rs1800890
IL19
0.658 0.400 1 206776020 intron variant A/T snv 0.32 29
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 21
rs1801265
DPYD
0.763 0.280 1 97883329 missense variant A/G snv 0.28 13
rs4969170
LOC101928674
0.752 0.440 17 78364457 intron variant A/C;G snv 0.54 11
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
rs2287886
CD209
0.776 0.280 19 7747650 upstream gene variant A/G;T snv 0.66 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
rs2297630
CXCL12
0.827 0.160 10 44376100 intron variant G/A;T snv 0.21 6
rs724159947
ETV6
0.851 0.120 12 11869601 missense variant C/T snv 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
rs735239
CD209
0.851 0.240 19 7748382 upstream gene variant A/G snv 0.26 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
rs886043118
STAT1
0.925 0.040 2 191009916 frameshift variant T/- delins 5