Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs562015640
PTEN
0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 16
rs28933386
PTPN11
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 15
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv 14
rs397507547
PTPN11
0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 14
rs886041347
NF1
0.790 0.320 17 31229061 stop gained C/T snv 13
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv 13
rs121918462
PTPN11
0.742 0.320 12 112450398 missense variant C/T snv 13
rs121918461
PTPN11
0.827 0.240 12 112450362 missense variant A/C;G;T snv 12
rs397514641
NF1
0.827 0.320 17 31169985 stop gained C/T snv 4.0E-06 1.4E-05 11
rs137854550
NF1
0.790 0.360 17 31258500 missense variant A/C;G snv 10
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
rs397507546
PTPN11
0.790 0.360 12 112489084 missense variant G/A;C;T snv 9
rs121918458
PTPN11
0.807 0.320 12 112489080 missense variant T/A;G snv 8
rs397507510
PTPN11
0.776 0.280 12 112450361 missense variant G/A;C;T snv 8
rs137854552
NF1
0.807 0.280 17 31334927 stop gained C/T snv 7
rs772295894
NF1
0.807 0.280 17 31338739 stop gained C/A;G snv 4.0E-06 7
rs786202112
NF1
0.827 0.280 17 31327839 missense variant G/A snv 7
rs121918465
PTPN11
0.827 0.200 12 112450407 missense variant A/C;G;T snv 7
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