Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs463312
TUBB1
1.000 0.040 20 59022915 missense variant A/C snv 7.7E-02 5.7E-02 4
rs104894816
GATA1
0.827 0.120 X 48792377 missense variant A/G snv 6
rs5030764
GP9
0.882 0.080 3 129061921 missense variant A/G snv 4.8E-04 7.4E-04 5
rs1064797087
FLI1
0.925 0.040 11 128810662 missense variant A/G snv 2
rs1213948992
FLI1
1.000 0.040 11 128810761 missense variant A/G snv 4.0E-06 1
rs1234442507
TUBB1
1.000 0.040 20 59022915 frameshift variant AG/- del 4.0E-06 3
rs143873938
FLNA
0.882 0.120 X 154365245 missense variant C/A;G;T snv 3.1E-03 4
rs80338831
MYH9
0.882 0.320 22 36292060 missense variant C/A;G;T snv 4
rs61749397
VWF
0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06 9
rs121908065
CHRNE ; GP1BA
0.851 0.080 17 4933119 missense variant C/T snv 5
rs121908063
GP1BA ; CHRNE
0.882 0.080 17 4932821 missense variant C/T snv 3
rs121918555
TUBB1
0.925 0.040 20 59024379 missense variant C/T snv 4.0E-06; 6.8E-05; 4.0E-06 2.8E-05 2
rs387907345
ACTN1
0.925 0.040 14 68921033 missense variant C/T snv 2
rs387907348
ACTN1
0.925 0.040 14 68925641 missense variant C/T snv 2
rs387907350
ACTN1
0.925 0.040 14 68904658 missense variant C/T snv 4.0E-06 7.0E-06 2
rs104894809
GATA1
0.790 0.120 X 48792371 missense variant G/A snv 9.5E-06 9
rs104894815
GATA1
0.776 0.120 X 48792337 missense variant G/A snv 9
rs80338826
MYH9
0.827 0.320 22 36305985 missense variant G/A snv 6
rs1064797086
FLI1
0.882 0.080 11 128810639 missense variant G/A snv 3
rs387907349
ACTN1
0.925 0.040 14 68880030 missense variant G/A snv 2
rs876657776
DIAPH1
0.925 0.160 5 141524167 stop gained G/A snv 2
rs371852125
TUBB1
1.000 0.040 20 59023863 missense variant G/A snv 3.6E-05 2.1E-05 1
rs121909752
SEPT5-GP1BB ; GP1BB ; SEPTIN5
0.925 0.080 22 19723980 stop gained G/A;C snv 7.5E-06 4
rs587776454
GATA1
0.851 0.160 X 48792346 missense variant G/A;C snv 4
rs766503255
ITGA2B
0.882 0.080 17 44372408 missense variant G/A;T snv 4.0E-06 4