Source: CLINVAR ×
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 12
rs121913237
NRAS
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 12
rs121913250
NRAS
0.683 0.440 1 114716127 missense variant C/A;G;T snv 12
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv 12
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 12
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 11
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv 11
rs869025195
RIT1
0.790 0.280 1 155904493 missense variant T/G snv 11
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs397507484
BRAF
0.752 0.480 7 140753333 missense variant T/A;C;G snv 10
rs397517077
CBL
0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 10
rs121918470
PTPN11
0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 10
rs104894366
KRAS
0.776 0.400 12 25245284 missense variant G/A;C snv 9
rs397507514
PTPN11
0.790 0.240 12 112450408 missense variant G/C;T snv 9
rs397516827
RAF1
0.882 0.160 3 12604194 missense variant G/A;C;T snv 9
rs869025191
RIT1
0.827 0.160 1 155904739 missense variant C/A;G;T snv 9
rs121913369
BRAF
0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 8
rs121918458
PTPN11
0.807 0.320 12 112489080 missense variant T/A;G snv 8
rs121918461
PTPN11
0.827 0.240 12 112450362 missense variant A/C;G;T snv 8
rs121918462
PTPN11
0.742 0.320 12 112450398 missense variant C/T snv 8
rs397507517
PTPN11
0.827 0.160 12 112450497 missense variant A/C snv 8
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
rs397507542
PTPN11
0.790 0.320 12 112489069 missense variant G/T snv 8
rs387906660
BRAF
0.790 0.280 7 140801550 missense variant G/A;C;T snv 7