Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 21
rs867384286
FBXW7
0.732 0.240 4 152328233 missense variant G/A;C snv 4.3E-06 14
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv 12
rs1057519942
PIK3CA
0.724 0.320 3 179203760 missense variant G/A snv 15
rs587777790
PIK3CA
0.732 0.280 3 179199690 missense variant G/A snv 12
rs587780071
TP53
0.732 0.240 17 7674951 missense variant G/A snv 11
rs1057519929
PIK3CA
0.776 0.320 3 179199066 missense variant G/A snv 9
rs867262025
PIK3CA
0.790 0.360 3 179221146 missense variant G/A snv 9
rs121917759
HRAS ; LRRC56
0.790 0.480 11 533466 missense variant G/A snv 7
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
rs759610249
FBXW7
0.790 0.160 4 152323032 missense variant C/T snv 8.0E-06 7.0E-06 8
rs1057519911
MAPK1
0.776 0.160 22 21772875 missense variant C/T snv 3
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 35
rs104894231
LRRC56 ; HRAS
0.776 0.360 11 533467 missense variant C/G;T snv 7
rs1057519922
NFE2L2
0.790 0.200 2 177234082 missense variant C/G;T snv 7
rs1057519896
FBXW7
0.742 0.320 4 152326136 missense variant C/A;T snv 12
rs1057519884
CREBBP
0.752 0.240 16 3738616 missense variant C/A;T snv 11
rs1057519816
ERBB2
0.763 0.200 17 39711955 missense variant C/A;T snv 10
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
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 30
rs104894226
LRRC56 ; HRAS
0.658 0.560 11 534285 missense variant C/A;G;T snv 23
rs730882005
TP53
0.701 0.400 17 7674250 missense variant C/A;G;T snv 8.0E-06 20
rs121912660
TP53
0.683 0.240 17 7673781 missense variant C/A;G;T snv 18
rs11554273
GNAS
0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 17