Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 34
rs104893877
SNCA
0.614 0.360 4 89828149 missense variant C/T snv 2
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs1057519757
PIK3R1
0.882 0.120 5 68293310 missense variant G/A;C snv 5
rs1057519884
CREBBP
0.752 0.240 16 3738616 missense variant C/A;T snv 11
rs1057519887
EGFR
0.925 0.040 7 55154128 missense variant GC/AA;AT mnv 3
rs1057519888
EGFR
0.925 0.080 7 55143386 missense variant A/G snv 3
rs1057519897
FGFR1
0.807 0.240 8 38414788 missense variant C/G;T snv 4.0E-06 6
rs1057519902
H3-3A
0.742 0.160 1 226064451 missense variant G/C snv 4
rs1057519903
H3-3A
0.683 0.080 1 226064434 missense variant A/T snv 2
rs1057519904
H3C11
0.742 0.080 6 27872233 missense variant T/A snv 2
rs1057519913
MTOR
0.925 0.120 1 11157172 missense variant G/C snv 3
rs1057519914
MTOR
0.851 0.240 1 11157174 missense variant A/G snv 4
rs1057519917
MTOR
0.807 0.160 1 11124517 missense variant A/G;T snv 7
rs1057519919
MYCNOS ; MYCN
0.851 0.160 2 15942195 missense variant C/T snv 5
rs1057519925
PIK3CA
0.683 0.560 3 179210291 missense variant G/A;C snv 23
rs1057519926
PIK3CA
0.776 0.200 3 179210293 missense variant A/T snv 10
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv 18
rs1057519929
PIK3CA
0.776 0.320 3 179199066 missense variant G/A snv 9
rs1057519932
PIK3CA
0.683 0.320 3 179234298 missense variant T/G snv 22
rs1057519933
PIK3CA
0.790 0.240 3 179199156 missense variant A/G snv 11
rs1057519934
PIK3CA
0.790 0.240 3 179199158 missense variant G/C snv 11
rs1057519935
PIK3CA
0.790 0.240 3 179199157 missense variant A/G snv 11
rs1057519936
PIK3CA
0.776 0.200 3 179234284 missense variant A/G;T snv 11