Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs750664148
CASC11 ; MYC
0.851 0.200 8 127738434 missense variant A/C;G snv 5
rs1057519883
CDKN2A
0.742 0.280 9 21971120 missense variant C/G;T snv 11
rs387906678
FGFR2
0.851 0.120 10 121515263 missense variant A/C;G snv 5
rs1057519900
FGFR2
0.882 0.120 10 121515259 missense variant C/T snv 3
rs121913474
FGFR2
0.790 0.200 10 121515260 missense variant A/G snv 3
rs2234767
FAS ; ACTA2
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15 1
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs727503094
LRRC56 ; HRAS
0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 1
rs770248150
KRAS
0.807 0.240 12 25225713 missense variant T/A;G snv 4.0E-06 6
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 3
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 39
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 37
rs121913343
TP53
0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 29
rs28934574
TP53
0.658 0.440 17 7673776 missense variant G/A;C snv 4.0E-06 27
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv 26
rs138729528
TP53
0.677 0.480 17 7675089 missense variant G/A;C snv 1.6E-05 25
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv 25
rs587778720
TP53
0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06 25
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06 24
rs786201057
TP53
0.677 0.400 17 7675995 missense variant G/A;C;T snv 24
rs587780070
TP53
0.683 0.320 17 7675077 missense variant G/A;C;T snv 4.0E-06 23
rs786201838
TP53
0.683 0.440 17 7674953 missense variant T/A;C;G snv 23
rs730882008
TP53
0.683 0.440 17 7673775 missense variant C/A;G;T snv 4.0E-06 22