Source: UNIPROT ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 7
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 5
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 4
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 4
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 4
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 3
rs121913351
BRAF
0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 2
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv 2
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 2
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 2
rs121913283
PIK3CA
0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 2
rs121913286
PIK3CA
0.677 0.280 3 179218306 missense variant C/A;G snv 2
rs121912666
TP53
0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 2
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 1
rs121913338
BRAF
0.677 0.400 7 140753354 missense variant T/A;C;G snv 1
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 1
rs1057519883
CDKN2A
0.742 0.280 9 21971120 missense variant C/G;T snv 1
rs121913385
CDKN2A
0.763 0.240 9 21971112 missense variant G/A;C snv 1
rs121913386
CDKN2A
0.807 0.120 9 21971018 missense variant G/A;T snv 1
rs121913399
CTNNB1
0.724 0.200 3 41224612 missense variant G/A;C snv 1
rs28931589
CTNNB1
0.695 0.240 3 41224613 missense variant G/A;C;T snv 1
rs1057519895
FBXW7
0.724 0.240 4 152328232 missense variant C/A;G;T snv 1
rs11554273
GNAS
0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 1
rs1057519904
H3C11
0.742 0.080 6 27872233 missense variant T/A snv 1
rs121913233
HRAS ; LRRC56
0.627 0.520 11 533874 missense variant T/A;C;G snv 1