Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918464
PTPN11
0.708 0.440 12 112450406 missense variant G/A;C snv 7
rs121913237
NRAS
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 12
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 18
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 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
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs199769221
PRSS1
0.790 0.280 7 142751920 missense variant G/A;C;T snv 8.0E-05; 4.0E-06 1
rs17851045
KRAS
0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 15
rs112445441
KRAS
0.658 0.400 12 25245347 missense variant C/A;G;T snv 8
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 19
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 11
rs1057519696
ALK
1.000 0.040 2 29214054 missense variant C/T snv 1
rs2239704
LTA ; LOC100287329
0.732 0.320 6 31572364 5 prime UTR variant A/C snv 0.64 1
rs909253
LTA ; LOC100287329
0.641 0.600 6 31572536 intron variant A/G;T snv 2
rs1799724
LTA ; TNF
0.600 0.680 6 31574705 upstream gene variant C/T snv 8.5E-02 2
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 1
rs1057519816
ERBB2
0.763 0.200 17 39711955 missense variant C/A;T snv 10
rs28929495
EGFR
0.807 0.120 7 55174014 missense variant G/A;C;T snv 3
rs121913465
EGFR ; EGFR-AS1
0.763 0.160 7 55181312 missense variant G/T snv 3
rs397517108
EGFR ; EGFR-AS1
0.790 0.120 7 55181312 missense variant GC/TT mnv 1
rs146795390
EGFR
0.827 0.080 7 55191776 missense variant G/A snv 8.0E-06 7.0E-06 1
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv 1
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv 1
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv 1