Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs562015640 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 16
rs886041347
NF1
0.790 0.320 17 31229061 stop gained C/T snv 13
rs397514641
NF1
0.827 0.320 17 31169985 stop gained C/T snv 4.0E-06 1.4E-05 11
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
rs1131691073
NF1
0.827 0.280 17 31340553 stop gained 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
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
rs137854555
NF1
0.925 0.160 17 31261810 stop gained G/A snv 2
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs121913530 0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
rs121918459 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs397507520 0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs1057519695 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs112445441 0.658 0.400 12 25245347 missense variant C/A;G;T snv 32
rs1057519834 0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs121918455 0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs121918460 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 27