Source: CLINVAR ×
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
rs1057519991
TP53
0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06 19
rs121913250
NRAS
0.683 0.440 1 114716127 missense variant C/A;G;T snv 12
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 10
rs121913370
BRAF
0.763 0.360 7 140753393 missense variant T/C;G snv 9
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 4
rs121913459
ABL1
0.672 0.160 9 130872896 missense variant C/T snv 3
rs121913461
ABL1
0.851 0.120 9 130862970 missense variant T/C snv 3
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 3
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 3
rs267607038
SETBP1
0.882 0.320 18 44951952 missense variant T/C;G snv 8.0E-06 3
rs387906517
ABL1
0.827 0.120 9 130862919 missense variant G/A snv 2
rs796065343
CSF3R
0.776 0.080 1 36467833 missense variant G/A snv 2
rs137852975
HNRNPUL2-BSCL2 ; BSCL2
0.851 0.240 11 62692671 stop gained C/A snv 2.0E-05 1.4E-05 2
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 2
rs267607042
SETBP1
0.851 0.320 18 44951942 missense variant G/A;C snv 2
rs1057519758
ABL1
1.000 0.080 9 130872153 missense variant T/G snv 1
rs1057519771
ABL1
1.000 0.080 9 130872201 missense variant G/C snv 1
rs1057519772
ABL1
1.000 0.080 9 130872895 missense variant A/G snv 1
rs1057519773
ABL1
0.851 0.160 9 130872901 missense variant T/A;C;G snv 1
rs1057519774
ABL1
1.000 0.080 9 130872902 missense variant T/G snv 1
rs1057519775
ABL1
1.000 0.080 9 130873028 missense variant T/G snv 1
rs121913448
ABL1
0.827 0.120 9 130862976 missense variant G/A snv 1
rs121913449
ABL1
1.000 0.080 9 130862977 missense variant A/T snv 1
rs121913450
ABL1
1.000 0.080 9 130873016 missense variant A/G snv 1