Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918453
PTPN11
0.732 0.280 12 112450394 missense variant G/A;C;T snv 19
rs2229094
LOC100287329 ; LTA
0.776 0.320 6 31572779 missense variant T/C snv 0.27 0.27 17
rs2239704
LTA ; LOC100287329
0.732 0.320 6 31572364 5 prime UTR variant A/C snv 0.64 17
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T snv 17
rs562015640
PTEN
0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 16
rs1057520009
XPO1
0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 14
rs13347
CD44
0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv 12
rs5743551
TLR1
0.742 0.240 4 38806033 intron variant T/A;C snv 12
rs397507514
PTPN11
0.790 0.240 12 112450408 missense variant G/C;T snv 10
rs267606706
CBL
0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 9
rs121913512
KIT
0.851 0.120 4 54728055 missense variant A/C;G snv 9
rs3921
CXCL10 ; ART3
0.807 0.240 4 76021790 3 prime UTR variant C/G snv 0.61 8
rs7656411
TLR2
0.790 0.320 4 153706503 downstream gene variant T/G snv 0.35 8
rs724159947
ETV6
0.851 0.120 12 11869601 missense variant C/T snv 6
rs757333753
RAF1
0.851 0.200 3 12618681 missense variant C/A;T snv 4.0E-06 6
rs1057519766
FLT3
0.851 0.080 13 28028203 missense variant G/C;T snv 5
rs757874631
CBL
0.882 0.120 11 119278211 missense variant T/A;C snv 4
rs779530981
PTEN
1.000 0.160 10 87933035 missense variant C/A snv 4
rs767464424
CEBPZ
0.925 0.080 2 37222420 frameshift variant T/- delins 4.2E-06 3
rs777017502
CEBPZ
0.925 0.080 2 37222420 missense variant T/C;G snv 4.2E-06; 4.2E-06 3
rs724159945
ETV6
1.000 12 11885968 missense variant C/A;T snv 3
rs724159946
ETV6
1.000 12 11884541 missense variant G/A snv 7.0E-06 3
rs2285489
ADAMTS13
9 133424254 intron variant T/C snv 0.68 2
rs770692189
BCL2L11 ; MIR4435-2HG
1.000 0.120 2 111123957 missense variant G/A;T snv 1.6E-05; 4.0E-06 2
rs387906664
CBL
1.000 11 119278220 missense variant T/C;G snv 2