Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs1057519834 0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs121434596 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 26
rs121434595 0.708 0.320 1 114716124 missense variant C/A;G;T snv 19
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
rs121913250 0.683 0.440 1 114716127 missense variant C/A;G;T snv 25
rs776906066
CBL
1.000 0.080 11 119206455 missense variant G/A snv 1
rs267606706
CBL
0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 9
rs387906666
CBL
0.827 0.080 11 119278182 missense variant A/C;G snv 5
rs727504426
CBL
0.882 0.320 11 119278508 splice acceptor variant A/G snv 3
rs140461950 1.000 0.080 8 122951616 missense variant G/A;T snv 8.8E-05 3.5E-05 1
rs121918546 1.000 0.080 5 143041855 missense variant A/C;G snv 4.3E-06; 4.3E-06 1
rs4553808 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 28
rs17851045 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 27
rs112445441 0.658 0.400 12 25245347 missense variant C/A;G;T snv 32
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
rs1240948789 1.000 0.080 22 30889607 missense variant G/A snv 8.0E-06 7.0E-06 1
rs397514641
NF1
0.827 0.320 17 31169985 stop gained C/T snv 4.0E-06 1.4E-05 11
rs778405030
NF1
0.827 0.280 17 31206297 stop gained C/T snv 8.0E-06; 4.0E-06 6
rs267606602
NF1
0.925 0.160 17 31221842 splice region variant A/G snv 2
rs1567847905
NF1
0.827 0.280 17 31227232 stop gained C/T snv 5
rs886041347
NF1
0.790 0.320 17 31229061 stop gained C/T snv 13
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