Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918462
PTPN11
0.742 0.320 12 112450398 missense variant C/T snv 13
rs121918464
PTPN11
0.708 0.440 12 112450406 missense variant G/A;C snv 25
rs121918465
PTPN11
0.827 0.200 12 112450407 missense variant A/C;G;T snv 7
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv 14
rs121918546
ARHGAP26
1.000 0.080 5 143041855 missense variant A/C;G snv 4.3E-06; 4.3E-06 1
rs1240948789
LOC107985544 ; OSBP2
1.000 0.080 22 30889607 missense variant G/A snv 8.0E-06 7.0E-06 1
rs137854550
NF1
0.790 0.360 17 31258500 missense variant A/C;G snv 10
rs137854552
NF1
0.807 0.280 17 31334927 stop gained C/T snv 7
rs137854555
NF1
0.925 0.160 17 31261810 stop gained G/A snv 2
rs137854556
NF1
0.827 0.280 17 31235729 missense variant G/A;C snv 4.0E-06 5
rs140461950
ZHX2
1.000 0.080 8 122951616 missense variant G/A;T snv 8.8E-05 3.5E-05 1
rs1555534433
NF1
0.827 0.280 17 31335032 splice donor variant G/A snv 5
rs1567847905
NF1
0.827 0.280 17 31227232 stop gained C/T snv 5
rs1567862991
NF1
0.827 0.280 17 31260481 stop gained C/T snv 5
rs17851045
KRAS
0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 27
rs267606602
NF1
0.925 0.160 17 31221842 splice region variant A/G snv 2
rs267606706
CBL
0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 9
rs267607042
SETBP1
0.851 0.320 18 44951942 missense variant G/A;C snv 5
rs28933386
PTPN11
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 15
rs387906666
CBL
0.827 0.080 11 119278182 missense variant A/C;G snv 5
rs397507505
PTPN11
0.827 0.240 12 112450352 missense variant A/C;G;T snv 5
rs397507506
PTPN11
0.807 0.240 12 112450354 missense variant C/A;G snv 6
rs397507510
PTPN11
0.776 0.280 12 112450361 missense variant G/A;C;T snv 8
rs397507511
PTPN11
0.882 0.240 12 112450385 missense variant G/A;C snv 3
rs397507514
PTPN11
0.790 0.240 12 112450408 missense variant G/C;T snv 10