Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519695
NRAS
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 1
rs11571658
BRCA2
0.851 0.240 13 32340630 frameshift variant TT/- del 2.8E-05 5
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv 1
rs1057519834
NRAS
0.658 0.480 1 114713908 missense variant TG/CT mnv 1
rs1057519853
GNAQ
0.851 0.080 9 77794572 missense variant TG/AA mnv 1
rs63749993
MSH2
0.882 0.200 2 47476424 missense variant T/G snv 3
rs1057519824
MET
0.807 0.120 7 116783374 missense variant T/G snv 2
rs1057519761
KIT
4 54733175 missense variant T/G snv 1
rs1057519808
MAP2K2
1.000 0.040 19 4117543 missense variant T/G snv 1
rs121913335
BRAF
7 140753375 missense variant T/G snv 1
rs137853080
STK11
1.000 0.040 19 1207058 missense variant T/G snv 1
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31 1
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 1
rs121912666
TP53
0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 24
rs587780073
TP53
0.708 0.400 17 7674262 missense variant T/C;G snv 17
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 14
rs730882026
TP53
0.742 0.440 17 7674256 missense variant T/C;G snv 12
rs121913272
PIK3CA
0.752 0.400 3 179210192 missense variant T/C;G snv 11
rs121913407
CTNNB1
0.763 0.240 3 41224645 missense variant T/C;G snv 10
rs886039484
TP53
0.641 0.440 17 7674888 missense variant T/C;G snv 10
rs121913470
ERBB2
0.776 0.200 17 39723967 missense variant T/C;G snv 7
rs121908864
TSHR ; LOC101928462
0.851 0.120 14 81143416 missense variant T/C;G snv 4.0E-06 1
rs28940297
VHL
0.882 0.240 3 10149811 missense variant T/C;G snv 1
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 1
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 17