Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918546
ARHGAP26
1.000 0.080 5 143041855 missense variant A/C;G snv 4.3E-06; 4.3E-06 1
rs776906066
CBL
1.000 0.080 11 119206455 missense variant G/A snv 1
rs11555293
IGFBP7 ; IGFBP7-AS1
1.000 0.080 4 57110126 missense variant C/T snv 1.4E-05 1
rs1240948789
LOC107985544 ; OSBP2
1.000 0.080 22 30889607 missense variant G/A snv 8.0E-06 7.0E-06 1
rs73420601
SGSM3
1.000 0.080 22 40404316 missense variant G/A snv 1.8E-04 3.5E-05 1
rs140461950
ZHX2
1.000 0.080 8 122951616 missense variant G/A;T snv 8.8E-05 3.5E-05 1
rs137854555
NF1
0.925 0.160 17 31261810 stop gained G/A snv 2
rs267606602
NF1
0.925 0.160 17 31221842 splice region variant A/G snv 2
rs727504426
CBL
0.882 0.320 11 119278508 splice acceptor variant A/G snv 3
rs397507511
PTPN11
0.882 0.240 12 112450385 missense variant G/A;C snv 3
rs387906666
CBL
0.827 0.080 11 119278182 missense variant A/C;G snv 5
rs1064794277
NF1
0.827 0.280 17 31232832 missense variant G/A;C;T snv 5
rs137854556
NF1
0.827 0.280 17 31235729 missense variant G/A;C snv 4.0E-06 5
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
rs397507505
PTPN11
0.827 0.240 12 112450352 missense variant A/C;G;T snv 5
rs267607042
SETBP1
0.851 0.320 18 44951942 missense variant G/A;C snv 5
rs1131691073
NF1
0.827 0.280 17 31340553 stop gained C/T snv 6
rs1131691075
NF1
0.827 0.280 17 31235773 splice donor variant G/A;T snv 6
rs771529172
NF1
0.827 0.280 17 31327719 missense variant G/A;C;T snv 6
rs778405030
NF1
0.827 0.280 17 31206297 stop gained C/T snv 8.0E-06; 4.0E-06 6
rs786201367
NF1
0.827 0.280 17 31357308 stop gained C/T snv 6
rs786203896
NF1
0.827 0.280 17 31330468 stop gained G/T snv 6
rs876660696
NF1
0.827 0.280 17 31335016 stop gained G/A snv 6