Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv 1
rs397516890
BRAF
1.000 0.080 7 140781601 inframe deletion TCC/- del 1
rs397516897
BRAF
1.000 0.080 7 140753334 inframe deletion TCA/- del 1
rs397517098
EGFR
1.000 0.080 7 55174777 inframe deletion TAAGAGAAG/- del 1
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31 1
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 14
rs121913370
BRAF
0.763 0.360 7 140753393 missense variant T/C;G snv 9
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 3
rs121913466
EGFR
1.000 0.080 7 55174762 missense variant T/C snv 1
rs199475643
PAH
0.882 0.240 12 102894894 missense variant T/C snv 8.0E-06 1
rs121913255
NRAS
0.667 0.400 1 114713907 missense variant T/A;G snv 19
rs17851045
KRAS
0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 15
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv 1
rs267598140
DDR2
0.925 0.080 1 162778600 missense variant T/A;G snv 1
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs121913338
BRAF
0.677 0.400 7 140753354 missense variant T/A;C;G snv 12
rs121913240
KRAS
0.672 0.440 12 25227342 missense variant T/A;C;G snv 6
rs121913444
EGFR
0.724 0.160 7 55191831 missense variant T/A;C;G snv 3
rs397517108
EGFR ; EGFR-AS1
0.790 0.120 7 55181312 missense variant GC/TT mnv 1
rs727503094
LRRC56 ; HRAS
0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 1
rs397516980
ERBB2 ; MIR4728
1.000 0.080 17 39724744 protein altering variant G/TTAT delins 1
rs121913465
EGFR ; EGFR-AS1
0.763 0.160 7 55181312 missense variant G/T snv 3
rs1057519784
ALK
0.827 0.080 2 29220765 missense variant G/T snv 1
rs1057519858
STK11
1.000 0.080 19 1220495 missense variant G/T snv 1
rs4402960
IGF2BP2
0.724 0.400 3 185793899 intron variant G/T snv 0.38 1