Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv 42
rs727503094
LRRC56 ; HRAS
0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs145204276
ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs9282861
SULT1A1
0.658 0.440 16 28606193 missense variant C/T snv 31
rs121918464
PTPN11
0.708 0.440 12 112450406 missense variant G/A;C snv 25
rs4444235 0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43 23
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv 22
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv 16
rs11568818
MMP7
0.763 0.280 11 102530930 upstream gene variant T/A;C snv 15
rs375874539
TP53
0.732 0.320 17 7674237 missense variant G/A;C snv 15
rs1284806277
MOK
0.827 0.200 14 102251978 missense variant A/G snv 1.4E-05 13
rs1285136498
NR3C1
0.807 0.080 5 143400101 missense variant G/A snv 13
rs104893626
CXCR4 ; LOC112268426
0.827 0.280 2 136114915 stop gained G/C snv 11
rs137852578
AR
0.827 0.080 X 67723710 missense variant A/G snv 10
rs2016347
IGF1R
0.790 0.160 15 98960571 3 prime UTR variant G/A;T snv 9
rs587782529
TP53
0.851 0.200 17 7670700 missense variant G/A;C snv 8
rs201216664
NME1-NME2 ; NME2
0.851 0.080 17 51171503 missense variant A/G snv 5
rs11672691
PCAT19
0.925 0.080 19 41479679 non coding transcript exon variant G/A snv 0.42 3
rs557263543
FGFR1
8 38412508 3 prime UTR variant C/T snv 3
rs55958994
KRT8
0.925 0.080 12 52907235 intron variant C/T snv 0.12 3