Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80359601
BRCA2
0.807 0.360 13 32340890 frameshift variant -/A;NNNNNNNN ins 4.1E-06 8
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs1057519928
PIK3CA
0.807 0.200 3 179221147 missense variant A/C snv 8
rs1057520002
TP53
0.695 0.360 17 7674242 missense variant A/C;G snv 20
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 28
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs1057519981
TP53
0.689 0.440 17 7674251 missense variant A/C;G;T snv 20
rs530941076
TP53
0.695 0.280 17 7674873 missense variant A/C;G;T snv 4.0E-06 20
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv 18
rs864622237
TP53
0.716 0.320 17 7674263 missense variant A/C;G;T snv 17
rs967461896
TP53
0.724 0.240 17 7675086 missense variant A/C;G;T snv 16
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv 14
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/C;G;T snv 13
rs876660333
TP53
0.742 0.360 17 7673805 missense variant A/C;G;T snv 13
rs121913396
CTNNB1
0.732 0.200 3 41224607 missense variant A/C;G;T snv 11
rs1057519983
TP53
0.724 0.360 17 7673797 missense variant A/G snv 16
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv 8
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs1057519936
PIK3CA
0.776 0.200 3 179234284 missense variant A/G;T snv 11
rs1057519926
PIK3CA
0.776 0.200 3 179210293 missense variant A/T snv 10
rs1057519892
ERBB3
0.851 0.160 12 56088558 missense variant A/T snv 5
rs1057519949
RHEB
0.851 0.120 7 151490964 missense variant A/T snv 4
rs1057519924
NFE2L2
0.807 0.200 2 177234080 missense variant C/A snv 6
rs121913286
PIK3CA
0.677 0.280 3 179218306 missense variant C/A;G snv 20
rs866775781
TP53
0.716 0.440 17 7675216 splice acceptor variant C/A;G snv 17