Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519915
MTOR
0.851 0.160 1 11109318 missense variant A/C snv 5
rs1057519916
MTOR
0.882 0.160 1 11109320 missense variant T/A snv 4
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
rs1057519900
FGFR2
0.882 0.120 10 121515259 missense variant C/T snv 3
rs121913474
FGFR2
0.790 0.200 10 121515260 missense variant A/G snv 3
rs387906678
FGFR2
0.851 0.120 10 121515263 missense variant A/C;G snv 5
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 18
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 4
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 35
rs1057519945
POLE
0.776 0.200 12 132673703 missense variant C/A;T snv 4
rs121913365
BRAF
0.776 0.320 7 140753332 missense variant T/A;G snv 8
rs397507484
BRAF
0.752 0.480 7 140753333 missense variant T/A;C;G snv 10
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 14
rs1057519896
FBXW7
0.742 0.320 4 152326136 missense variant C/A;T snv 12
rs149680468
FBXW7
0.742 0.320 4 152326137 missense variant G/A;C;T snv 12
rs866987936
FBXW7
0.752 0.240 4 152326214 missense variant C/A;G;T snv 12
rs747241612
FBXW7
0.752 0.240 4 152326215 missense variant G/C snv 4.0E-06 12
rs1057519895
FBXW7
0.724 0.240 4 152328232 missense variant C/A;G;T snv 14
rs867384286
FBXW7
0.732 0.240 4 152328233 missense variant G/A;C snv 4.3E-06 14