Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691075
NF1
0.827 0.280 17 31235773 splice donor variant G/A;T snv 6
rs137854550
NF1
0.790 0.360 17 31258500 missense variant A/C;G snv 10
rs1567862991
NF1
0.827 0.280 17 31260481 stop gained C/T snv 5
rs137854555
NF1
0.925 0.160 17 31261810 stop gained G/A snv 2
rs771529172
NF1
0.827 0.280 17 31327719 missense variant G/A;C;T snv 6
rs786202112
NF1
0.827 0.280 17 31327839 missense variant G/A snv 7
rs786203896
NF1
0.827 0.280 17 31330468 stop gained G/T snv 6
rs137854552
NF1
0.807 0.280 17 31334927 stop gained C/T snv 7
rs876660696
NF1
0.827 0.280 17 31335016 stop gained G/A snv 6
rs1555534433
NF1
0.827 0.280 17 31335032 splice donor variant G/A snv 5
rs772295894
NF1
0.807 0.280 17 31338739 stop gained C/A;G snv 4.0E-06 7
rs1131691073
NF1
0.827 0.280 17 31340553 stop gained C/T snv 6
rs786201367
NF1
0.827 0.280 17 31357308 stop gained C/T snv 6
rs73420601
SGSM3
1.000 0.080 22 40404316 missense variant G/A snv 1.8E-04 3.5E-05 1
rs267607042
SETBP1
0.851 0.320 18 44951942 missense variant G/A;C snv 5
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs121913506
KIT
0.677 0.320 4 54733154 missense variant G/A;C;T snv 24
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv 22
rs11555293
IGFBP7 ; IGFBP7-AS1
1.000 0.080 4 57110126 missense variant C/T snv 1.4E-05 1
rs562015640
PTEN
0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 16