Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv 11
rs121913351
BRAF
0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 9
rs121913353
BRAF
0.925 0.160 7 140781612 missense variant C/G;T snv 2
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 16
rs267598140
DDR2
0.925 0.080 1 162778600 missense variant T/A;G snv 1
rs351855
FGFR4
0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 1
rs397517200
PIK3CA
1.000 0.080 3 179210293 inframe deletion AGATTTGCTGAACCC/- del 1
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 21
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 34
rs397517202
PIK3CA
0.851 0.320 3 179234230 missense variant A/G snv 1
rs121913283
PIK3CA
0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 14
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs4402960
IGF2BP2
0.724 0.400 3 185793899 intron variant G/T snv 0.38 1
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 18
rs121913386
CDKN2A
0.807 0.120 9 21971018 missense variant G/A;T snv 6
rs754806883
CDKN2A
0.925 0.160 9 21971063 missense variant C/A;G;T snv 4.3E-06; 8.5E-06 2
rs727503106
KRAS
1.000 0.080 12 25227234 missense variant C/T snv 1
rs17851045
KRAS
0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 15
rs121913240
KRAS
0.672 0.440 12 25227342 missense variant T/A;C;G snv 6
rs121913238
KRAS
0.732 0.240 12 25227343 missense variant G/C;T snv 3
rs727503108
KRAS
0.882 0.280 12 25227345 missense variant C/A snv 4.0E-06 3
rs397517040
KRAS
0.925 0.120 12 25245346 synonymous variant G/A;T snv 4.0E-06 1
rs112445441
KRAS
0.658 0.400 12 25245347 missense variant C/A;G;T snv 8