Disease: Noonan Syndrome 1
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507504
PTPN11
0.925 0.160 12 112450346 missense variant A/G snv 7.0E-06 2
rs397507525
PTPN11
0.925 0.160 12 112472968 missense variant C/T snv 7.0E-06 2
rs397507543
PTPN11
0.925 0.160 12 112489078 missense variant G/A snv 2
rs397516801
PTPN11
0.925 0.160 12 112450389 missense variant A/G snv 2
rs180177034
BRAF
0.882 0.200 7 140801536 missense variant C/G snv 3
rs267606921
NRAS
0.882 0.160 1 114713941 missense variant G/A snv 3
rs397507511
PTPN11
0.882 0.240 12 112450385 missense variant G/A;C snv 3
rs397507523
PTPN11
0.882 0.160 12 112472954 missense variant A/G snv 3
rs672601335
RIT1
0.882 0.160 1 155904456 missense variant C/G snv 3
rs876657651
MAP2K1
0.882 0.160 15 66436818 missense variant A/G snv 3
rs137852812
SOS1
0.851 0.200 2 39051211 missense variant G/T snv 4
rs267606920
NRAS
0.882 0.160 1 114713911 missense variant C/T snv 7.0E-06 4
rs267606990
RPL6 ; PTPN11
0.851 0.240 12 112419116 missense variant C/T snv 4
rs376607329
PTPN11
0.851 0.200 12 112472981 missense variant G/A;T snv 3.2E-05 3.5E-05 4
rs397507501
PTPN11
0.882 0.160 12 112446385 missense variant A/G snv 5
rs397507505
PTPN11
0.827 0.240 12 112450352 missense variant A/C;G;T snv 5
rs397507529
PTPN11
0.851 0.160 12 112473031 missense variant A/G snv 7.0E-06 5
rs397507541
PTPN11
0.827 0.160 12 112489068 missense variant C/T snv 4.0E-06 7.0E-06 5
rs121918463
PTPN11
0.851 0.240 12 112477651 missense variant T/A;C;G snv 6
rs397507506
PTPN11
0.807 0.240 12 112450354 missense variant C/A;G snv 6
rs387906660
BRAF
0.790 0.280 7 140801550 missense variant G/A;C;T snv 7
rs397517150
SOS1
0.827 0.160 2 39023118 missense variant A/C;G snv 7
rs121918458
PTPN11
0.807 0.320 12 112489080 missense variant T/A;G snv 8
rs397507510
PTPN11
0.776 0.280 12 112450361 missense variant G/A;C;T snv 8
rs397507517
PTPN11
0.827 0.160 12 112450497 missense variant A/C snv 8