Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507547
PTPN11
0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 14
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
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv 11
rs397507484
BRAF
0.752 0.480 7 140753333 missense variant T/A;C;G snv 10
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 16
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 15
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 26
rs483352822
RIT1
0.776 0.360 1 155904470 stop lost C/A;G;T snv 16
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv 15
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv 13
rs104894366
KRAS
0.776 0.400 12 25245284 missense variant G/A;C snv 9
rs397507510
PTPN11
0.776 0.280 12 112450361 missense variant G/A;C;T snv 5
rs397507483
BRAF
0.790 0.400 7 140753348 missense variant C/A;T snv 13
rs886041347
NF1
0.790 0.320 17 31229061 stop gained C/T snv 12
rs869025195
RIT1
0.790 0.280 1 155904493 missense variant T/G snv 11
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 9
rs121913369
BRAF
0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 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
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs121918458
PTPN11
0.807 0.320 12 112489080 missense variant T/A;G snv 8
rs397507506
PTPN11
0.807 0.240 12 112450354 missense variant C/A;G snv 6
rs727504317
MAP2K1
0.807 0.320 15 66435145 missense variant G/A snv 6