Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs28933406
LRRC56 ; HRAS
0.667 0.480 11 533875 missense variant G/C;T snv 17
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv 17
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 16
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv 15
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/C;G;T snv 13
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv 10
rs121913409
CTNNB1
0.708 0.400 3 41224646 missense variant C/A;G;T snv 9
rs587779340
PMS2
0.882 0.200 7 6003794 splice acceptor variant T/A;C;G snv 4.1E-06 7
rs532480170
C11orf65 ; ATM
0.882 0.280 11 108316015 stop gained C/A;T snv 1.2E-05; 4.0E-06 5
rs267607845
MLH1
0.925 0.160 3 37042267 splice acceptor variant G/A;T snv 5
rs786201675
ATM
0.925 0.320 11 108282838 frameshift variant TTATT/- delins 4
rs121913238
KRAS
0.732 0.240 12 25227343 missense variant G/C;T snv 3
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs886040738
BRCA2
0.851 13 32363188 frameshift variant G/- delins 2
rs1057519781
ALK
0.807 0.160 2 29209816 missense variant C/G snv 1
rs80359030
BRCA2
0.851 13 32363189 stop gained G/A;T snv 4.0E-06 1
rs1555927374
CHEK2
22 28725346 stop gained C/T snv 1
rs351855
FGFR4
0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 1
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31 1
rs121913254
NRAS
0.658 0.440 1 114713909 stop gained G/A;C;T snv 1
rs267606985
PTHLH
1.000 12 27963693 missense variant A/G snv 1
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1