Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519921
NFE2L2
0.763 0.240 2 177234231 missense variant T/C snv 7
rs1057519897
FGFR1
0.807 0.240 8 38414788 missense variant C/G;T snv 4.0E-06 6
rs1057519961
SF3B1
0.851 0.240 2 197402759 missense variant C/T snv 4
rs775623976
SF3B1
0.851 0.240 2 197402760 missense variant G/A;C snv 4.0E-06 4
rs121913286
PIK3CA
0.677 0.280 3 179218306 missense variant C/A;G snv 20
rs530941076
TP53
0.695 0.280 17 7674873 missense variant A/C;G;T snv 4.0E-06 20
rs753660142
TP53
0.708 0.280 17 7673782 missense variant T/C;G snv 1.6E-05 19
rs1057519883
CDKN2A
0.742 0.280 9 21971120 missense variant C/G;T snv 11
rs121913361
BRAF
0.807 0.280 7 140753349 missense variant C/A;G;T snv 6
rs397516792
MAP2K1
0.827 0.280 15 66436825 missense variant C/A;G;T snv 6
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 28
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06 25
rs1057519932
PIK3CA
0.683 0.320 3 179234298 missense variant T/G snv 22
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/G snv 20
rs786202962
TP53
0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06 17
rs864622237
TP53
0.716 0.320 17 7674263 missense variant A/C;G;T snv 17
rs121434595
NRAS
0.708 0.320 1 114716124 missense variant C/A;G;T snv 13
rs1057519896
FBXW7
0.742 0.320 4 152326136 missense variant C/A;T snv 12
rs149680468
FBXW7
0.742 0.320 4 152326137 missense variant G/A;C;T snv 12
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv 11
rs375874539
TP53
0.732 0.320 17 7674237 missense variant G/A;C snv 11
rs587778720
TP53
0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06 25
rs121912666
TP53
0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 24
rs1057520002
TP53
0.695 0.360 17 7674242 missense variant A/C;G snv 20
rs786201059
TP53
0.701 0.360 17 7673764 stop gained C/A;G;T snv 19