Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 11
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv 7
rs63750741
FBXO11 ; MSH6
0.827 0.200 2 47799329 missense variant T/C snv 1.2E-05 4
rs121913513
KIT
0.776 0.120 4 54727495 missense variant T/C snv 3
rs5030809
VHL
0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 3
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 3
rs137853296
RB1
1.000 0.080 13 48463758 missense variant T/C snv 2
rs63750193
MLH1
0.851 0.160 3 37040276 missense variant T/C snv 2
rs1057519702
KIT
1.000 0.040 4 54726020 missense variant T/C snv 1
rs1057519719
BRAF
1.000 0.080 7 140781593 missense variant T/C snv 1
rs1057519819
MAP2K1
0.851 0.240 15 66436750 missense variant T/C snv 1
rs1057519823
MAP2K1
15 66481830 missense variant T/C snv 1
rs121434264
LOC101929160 ; CDC73
0.851 0.080 1 193125171 missense variant T/C snv 1
rs121913362
BRAF
7 140753359 missense variant T/C snv 1
rs5030828
VHL
3 10142101 missense variant T/C snv 1
rs672601307
USP8
1.000 0.080 15 50490443 missense variant T/C snv 1
rs867114783
TP53
17 7675109 missense variant T/C snv 1
rs121913255
NRAS
0.667 0.400 1 114713907 missense variant T/A;G snv 19
rs17851045
KRAS
0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 15
rs121913284
PIK3CA
0.776 0.160 3 179203765 missense variant T/A;G snv 10
rs121913514
KIT
0.763 0.240 4 54733174 missense variant T/A;G snv 3
rs1057519730
MAP2K1
1.000 0.040 15 66436786 missense variant T/A;G snv 2
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv 1
rs730880502
MAP2K1
15 66436762 missense variant T/A;G snv 1
rs786202676
CHEK2
22 28696956 missense variant T/A;G snv 1