Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 11
rs886039484
TP53
0.641 0.440 17 7674888 missense variant T/C;G snv 10
rs121913351
BRAF
0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 9
rs371769427
U2AF1
0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 9
rs121913369
BRAF
0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 8
rs121913469
ERBB2
0.763 0.240 17 39723966 missense variant TT/CC mnv 8
rs376526037
ERCC6
0.776 0.440 10 49483504 stop gained G/A snv 1.6E-05 2.8E-05 8
rs180177042
BRAF
0.807 0.280 7 140749365 missense variant A/C;T snv 7
rs387906660
BRAF
0.790 0.280 7 140801550 missense variant G/A;C;T snv 7
rs121917901
ERCC6
0.790 0.440 10 49478437 stop gained G/A snv 7.2E-05 4.9E-05 7
rs373227647
ERCC6
0.790 0.440 10 49472472 splice acceptor variant T/C snv 8.0E-06 7.0E-06 7
rs121917902
ERCC6 ; PGBD3
0.790 0.440 10 49524073 stop gained G/A snv 7
rs121913366
BRAF
0.763 0.400 7 140753345 missense variant A/C;T snv 6
rs387906661
BRAF
0.807 0.280 7 140801551 missense variant T/G snv 6
rs397507466
BRAF
0.807 0.280 7 140801537 missense variant T/A;C;G snv 4.0E-06 6
rs121913240
KRAS
0.672 0.440 12 25227342 missense variant T/A;C;G snv 6
rs587782705
TP53
0.807 0.280 17 7675157 missense variant G/A snv 8.0E-06 6
rs397516895
BRAF
0.827 0.280 7 140753392 missense variant A/T snv 5
rs34424986
PRKN
0.752 0.200 6 161785820 missense variant G/A;T snv 1.9E-03; 8.0E-06 5
rs540635787
CHEK2
0.851 0.200 22 28694073 missense variant G/A;C;T snv 1.7E-05 4
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 3
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 3
rs121913465
EGFR ; EGFR-AS1
0.763 0.160 7 55181312 missense variant G/T snv 3
rs1057519911
MAPK1
0.776 0.160 22 21772875 missense variant C/T snv 3
rs2066847
NOD2
0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 3