Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs869025573
NRAS
1.000 0.160 1 114716090 missense variant A/T snv 1
rs397507524
PTPN11
1.000 0.160 12 112472949 inframe insertion ACA/-;ACAACA delins 1
rs397507525
PTPN11
0.925 0.160 12 112472968 missense variant C/T snv 7.0E-06 1
rs397507543
PTPN11
0.925 0.160 12 112489078 missense variant G/A snv 1
rs80338836
PTPN11
1.000 0.160 12 112450357 inframe deletion GTG/- delins 1
rs869025574
PTPN11
1.000 0.160 12 112450360 inframe deletion GAT/- delins 1
rs606231228
BRAF
0.925 0.160 7 140777013 missense variant C/A;G snv 2
rs267606920
NRAS
0.882 0.160 1 114713911 missense variant C/T snv 7.0E-06 2
rs397514553
NRAS
0.925 0.200 1 114716060 missense variant G/A snv 2
rs397507504
PTPN11
0.925 0.160 12 112450346 missense variant A/G snv 7.0E-06 2
rs397507511
PTPN11
0.882 0.240 12 112450385 missense variant G/A;C snv 2
rs397516801
PTPN11
0.925 0.160 12 112450389 missense variant A/G snv 2
rs113954997
RRAS2
0.882 0.280 11 14294844 missense variant T/A;C snv 2
rs869320687
SOS2
0.925 0.160 14 50161551 missense variant G/C snv 2
rs180177034
BRAF
0.882 0.200 7 140801536 missense variant C/G snv 3
rs876657651
MAP2K1
0.882 0.160 15 66436818 missense variant A/G snv 3
rs267606921
NRAS
0.882 0.160 1 114713941 missense variant G/A 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
rs267606990
RPL6 ; PTPN11
0.851 0.240 12 112419116 missense variant C/T snv 3
rs376607329
PTPN11
0.851 0.200 12 112472981 missense variant G/A;T snv 3.2E-05 3.5E-05 4
rs397507529
PTPN11
0.851 0.160 12 112473031 missense variant A/G snv 7.0E-06 4
rs397507541
PTPN11
0.827 0.160 12 112489068 missense variant C/T snv 4.0E-06 7.0E-06 4
rs1557962794
RIT1
0.882 0.160 1 155910693 missense variant T/G snv 4
rs137852812
SOS1
0.851 0.200 2 39051211 missense variant G/T snv 4