Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777900
MTOR
1.000 0.120 1 11114363 missense variant C/T snv 1
rs1057519780
MTOR
1.000 0.120 1 11127800 missense variant C/T snv 1
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
rs1057519958
RXRA
0.851 0.200 9 134436505 missense variant C/A;T snv 3
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
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
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
rs1057519950
RHEB
0.827 0.200 7 151490963 missense variant T/A;C snv 4
rs1057519949
RHEB
0.851 0.120 7 151490964 missense variant A/T snv 4
rs759610249
FBXW7
0.790 0.160 4 152323032 missense variant C/T snv 8.0E-06 7.0E-06 8
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
rs1057519924
NFE2L2
0.807 0.200 2 177234080 missense variant C/A snv 6
rs1057519923
NFE2L2
0.807 0.200 2 177234081 missense variant T/A snv 6
rs1057519922
NFE2L2
0.790 0.200 2 177234082 missense variant C/G;T snv 7