Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs199475643
PAH
0.882 0.240 12 102894894 missense variant T/C snv 8.0E-06 1
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 1
rs1143627
IL1B
0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 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
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
rs121913671
MET
0.882 0.160 7 116783353 missense variant G/A;C snv 2
rs121913246
MET
0.827 0.200 7 116783360 missense variant A/G snv 4
rs1057519788
ROS1
0.925 0.080 6 117317184 missense variant C/T snv 1
rs1057519858
STK11
1.000 0.080 19 1220495 missense variant G/T snv 1
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 1
rs121912470
IRF1
0.925 0.120 5 132489448 missense variant A/G snv 1
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 14
rs397516897
BRAF
1.000 0.080 7 140753334 inframe deletion TCA/- del 1
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
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 1
rs121913378
BRAF
0.776 0.280 7 140753337 missense variant C/A;G;T snv 6
rs727502902
BRAF
0.882 0.080 7 140753338 inframe insertion -/TAG delins 4.0E-06 4
rs121913369
BRAF
0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 8
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
rs121913370
BRAF
0.763 0.360 7 140753393 missense variant T/C;G snv 9
rs397516890
BRAF
1.000 0.080 7 140781601 inframe deletion TCC/- del 1