Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913365
BRAF
0.776 0.320 7 140753332 missense variant T/A;G snv 8
rs397507484
BRAF
0.752 0.480 7 140753333 missense variant T/A;C;G snv 10
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 14
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121913366
BRAF
0.763 0.400 7 140753345 missense variant A/C;T snv 6
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
rs121913287
PIK3CA
0.752 0.400 3 179199088 missense variant G/A snv 11
rs587777790
PIK3CA
0.732 0.280 3 179199690 missense variant G/A snv 12
rs1057519939
PIK3CA
0.776 0.160 3 179203763 missense variant A/C snv 10
rs1057519938
PIK3CA
0.776 0.160 3 179203764 missense variant A/C;T snv 10
rs121913284
PIK3CA
0.776 0.160 3 179203765 missense variant T/A;G snv 10
rs121913272
PIK3CA
0.752 0.400 3 179210192 missense variant T/C;G snv 11
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 21
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv 18
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 34
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
rs121913286
PIK3CA
0.677 0.280 3 179218306 missense variant C/A;G snv 20
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv 14
rs1057519940
PIK3CA
0.752 0.200 3 179218308 missense variant G/T snv 13
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
rs1057519932
PIK3CA
0.683 0.320 3 179234298 missense variant T/G snv 22