Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs868408509
LAMA2
0.827 0.160 6 128883315 missense variant C/G;T snv 4.6E-06 6
rs876660696
NF1
0.827 0.280 17 31335016 stop gained G/A snv 6
rs1057518904
NF1
0.882 0.240 17 31221932 missense variant A/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
rs35690297
PMS2
1.000 0.120 7 6002584 start lost T/A;C snv 5
rs768366978
NF1
0.851 0.240 17 31352411 missense variant C/T snv 4.0E-06 5
rs786202457
NF1
0.882 0.120 17 31350209 stop gained C/T snv 5
rs137854562
NF1
0.925 0.120 17 31235623 stop gained C/T snv 4
rs267606606
NF1
0.882 0.240 17 31229954 inframe deletion AAT/- del 4.0E-06 4
rs267606990
RPL6 ; PTPN11
0.851 0.240 12 112419116 missense variant C/T snv 4
rs397514640
PAX6
0.882 0.160 11 31802733 missense variant G/A snv 4
rs797045139
NF1
0.882 0.120 17 31327718 missense variant C/A;G;T snv 4
rs876657714
NF1
0.882 0.200 17 31327535 stop gained C/T snv 4
rs1057518807
NF1
0.882 0.200 17 31338788 stop gained C/T snv 3
rs1060500376
NF1
0.925 0.240 17 31337881 splice donor variant G/A;C;T snv 4.0E-06; 4.0E-06 3
rs1279529138
NF1
0.882 0.160 17 31260516 splice donor variant G/A;T snv 3
rs137854563
NF1
0.925 0.120 17 31201044 missense variant T/C;G snv 3
rs1555534379
NF1
1.000 0.120 17 31334856 frameshift variant T/- delins 3
rs1555535403
NF1
1.000 0.120 17 31343021 inframe deletion TATTTATGGCAATCCGGAATCCTCTGG/- delins 3