Disease: Noonan Syndrome 1
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507539
PTPN11
0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06 8
rs397507540
PTPN11
0.851 0.160 12 112489048 missense variant C/A;T snv 8
rs397507509
PTPN11
0.807 0.240 12 112450359 missense variant G/C;T snv 9
rs397507542
PTPN11
0.790 0.320 12 112489069 missense variant G/T snv 9
rs869025191
RIT1
0.827 0.160 1 155904739 missense variant C/A;G;T snv 9
rs121918470
PTPN11
0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 10
rs397507514
PTPN11
0.790 0.240 12 112450408 missense variant G/C;T snv 10
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs869025195
RIT1
0.790 0.280 1 155904493 missense variant T/G snv 11
rs121913369
BRAF
0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 12
rs121918461
PTPN11
0.827 0.240 12 112450362 missense variant A/C;G;T snv 12
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv 13
rs121918462
PTPN11
0.742 0.320 12 112450398 missense variant C/T snv 13
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv 13
rs397507549
PTPN11
0.742 0.240 12 112489104 missense variant C/A;G snv 13
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv 14
rs397507547
PTPN11
0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 14
rs28933386
PTPN11
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 15
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv 15
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 16
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 16
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T snv 17
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv 18
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv 18
rs121918453
PTPN11
0.732 0.280 12 112450394 missense variant G/A;C;T snv 19