Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11125529
ACYP2
0.882 0.280 2 54248729 intron variant C/A;T snv 1
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 1
rs121912967
DCC
0.925 0.080 18 52906134 missense variant T/C snv 1
rs2234767
FAS ; ACTA2
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15 1
rs763110
FASLG
0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49 1
rs1800872
IL19 ; IL10
0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 1
rs727503094
LRRC56 ; HRAS
0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 1
rs4939827
SMAD7
0.708 0.160 18 48927093 intron variant T/A;C snv 1
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 3
rs121913465
EGFR ; EGFR-AS1
0.763 0.160 7 55181312 missense variant G/T snv 3
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
rs121912654
TP53
0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 3
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv 3
rs1057519918
CASC11 ; MYC
0.851 0.200 8 127738390 missense variant C/T snv 5
rs750664148
CASC11 ; MYC
0.851 0.200 8 127738434 missense variant A/C;G snv 5
rs121913468
ERBB2
0.827 0.160 17 39724008 missense variant G/A;C;T snv 5
rs387906678
FGFR2
0.851 0.120 10 121515263 missense variant A/C;G snv 5
rs1057519952
RHOA
0.882 0.160 3 49375577 missense variant G/A snv 5
rs1057519953
RHOA
0.807 0.200 3 49375576 missense variant C/A;T snv 5
rs1057519889
EP300
0.807 0.200 22 41169525 missense variant G/A;T snv 6
rs770248150
KRAS
0.807 0.240 12 25225713 missense variant T/A;G snv 4.0E-06 6
rs756091827
MYC ; CASC11
0.851 0.200 8 127738435 missense variant C/G;T snv 6
rs1057519962
SMAD4
0.827 0.160 18 51067035 missense variant G/A;T snv 6