Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs1057519909
MAP2K1
0.790 0.240 15 66435116 missense variant A/C snv 6
rs1057519959
SF3B2
0.882 0.200 11 66063028 missense variant A/C snv 4
rs1057519907
KIT
0.925 0.120 4 54728057 missense variant A/C snv 2
rs1057520002
TP53
0.695 0.360 17 7674242 missense variant A/C;G snv 20
rs121913512
KIT
0.851 0.120 4 54728055 missense variant A/C;G snv 6
rs750664148
CASC11 ; MYC
0.851 0.200 8 127738434 missense variant A/C;G snv 5
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 28
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs876660821
TP53
0.689 0.400 17 7675075 missense variant A/C;G;T snv 21
rs530941076
TP53
0.695 0.280 17 7674873 missense variant A/C;G;T snv 4.0E-06 20
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv 17
rs786203436
TP53
0.701 0.280 17 7675125 missense variant A/C;G;T snv 15
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv 14
rs1057520006
TP53
0.752 0.240 17 7673799 missense variant A/C;G;T snv 12
rs121913396
CTNNB1
0.732 0.200 3 41224607 missense variant A/C;G;T snv 11
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv 10
rs1057519997
TP53
0.776 0.320 17 7676037 missense variant A/C;G;T snv 9
rs121434498
MAP2K2
0.807 0.280 19 4117553 missense variant A/C;G;T snv 6
rs121913366
BRAF
0.763 0.400 7 140753345 missense variant A/C;T snv 6
rs1057519910
MAP2K2
0.851 0.160 19 4117551 missense variant A/C;T snv 4
rs1057519742
GNA11
0.827 0.160 19 3118944 missense variant A/C;T snv 3
rs1057519983
TP53
0.724 0.360 17 7673797 missense variant A/G snv 16
rs1057519841
PIK3R1
0.925 0.120 5 68295269 missense variant A/G snv 5
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45