Disease: Cafe-au-lait macules with pulmonary stenosis
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886041347
NF1
0.790 0.320 17 31229061 stop gained C/T snv 13
rs137854550
NF1
0.790 0.360 17 31258500 missense variant A/C;G snv 10
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
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
rs876660696
NF1
0.827 0.280 17 31335016 stop gained G/A snv 6
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