Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894419
LIG4
0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 8
rs121918464
PTPN11
0.708 0.440 12 112450406 missense variant G/A;C snv 7
rs121918465
PTPN11
0.827 0.200 12 112450407 missense variant A/C;G;T snv 6
rs397507546
PTPN11
0.790 0.360 12 112489084 missense variant G/A;C;T snv 6
rs121913255
NRAS
0.667 0.400 1 114713907 missense variant T/A;G snv 19
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs121434596
NRAS
0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 14
rs121434595
NRAS
0.708 0.320 1 114716124 missense variant C/A;G;T snv 13
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
rs121913478
FGFR2
0.708 0.640 10 121515280 missense variant T/C snv 13
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121913366
BRAF
0.763 0.400 7 140753345 missense variant A/C;T snv 6
rs397507483
BRAF
0.790 0.400 7 140753348 missense variant C/A;T snv 13
rs121913361
BRAF
0.807 0.280 7 140753349 missense variant C/A;G;T snv 6
rs121913338
BRAF
0.677 0.400 7 140753354 missense variant T/A;C;G snv 12
rs397516896
BRAF
0.763 0.360 7 140753355 missense variant C/G;T snv 11
rs1057519718
BRAF
0.925 0.160 7 140753355 missense variant CA/TC mnv 1
rs121913370
BRAF
0.763 0.360 7 140753393 missense variant T/C;G snv 9
rs180177040
BRAF
0.790 0.360 7 140754187 missense variant T/C;G snv 9
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv 11
rs121913351
BRAF
0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 9
rs2228145
IL6R
0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 2