Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2231137
ABCG2
0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02 1
rs1057519718
BRAF
0.925 0.160 7 140753355 missense variant CA/TC mnv 1
rs121909631
FGFR1
0.827 0.280 8 38419696 missense variant T/C snv 1
rs12203592
IRF4
0.649 0.320 6 396321 intron variant C/T snv 0.10 1
rs10936599
MYNN
0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 1
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 1
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 2
rs2228145
IL6R
0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 2
rs1057517992
KMT2D
0.925 0.240 12 49031861 stop gained G/A snv 2
rs121913527
KRAS
0.807 0.320 12 25225628 missense variant C/A;G;T snv 2
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 3
rs104894340
CDK4
0.827 0.200 12 57751647 missense variant C/A;T snv 5
rs730882018
TP53
0.851 0.320 17 7676153 frameshift variant G/-;GG delins 5
rs121913361
BRAF
0.807 0.280 7 140753349 missense variant C/A;G;T snv 6
rs121913366
BRAF
0.763 0.400 7 140753345 missense variant A/C;T snv 6
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 6
rs121913502
IDH2
0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 6
rs267606870
IDH2
0.763 0.280 15 90088703 missense variant G/A;C snv 6
rs121913240
KRAS
0.672 0.440 12 25227342 missense variant T/A;C;G snv 6
rs770248150
KRAS
0.807 0.240 12 25225713 missense variant T/A;G snv 4.0E-06 6
rs121918465
PTPN11
0.827 0.200 12 112450407 missense variant A/C;G;T snv 6
rs397507546
PTPN11
0.790 0.360 12 112489084 missense variant G/A;C;T snv 6
rs587780174
CHEK2
0.827 0.360 22 28695239 frameshift variant A/- delins 4.4E-05 5.6E-05 7