Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs1135401891
BRCA2
0.790 0.280 13 32332796 frameshift variant -/CT ins 1
rs63750250
PMS2
0.807 0.280 7 5986933 frameshift variant -/T delins 1.6E-05 4.2E-05 9
rs1057519939
PIK3CA
0.776 0.160 3 179203763 missense variant A/C snv 10
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
rs876660821
TP53
0.689 0.400 17 7675075 missense variant A/C;G;T snv 21
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
rs760043106
TP53
0.645 0.440 17 7674947 missense variant A/C;G;T snv 18
rs864622237
TP53
0.716 0.320 17 7674263 missense variant A/C;G;T snv 17
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv 14
rs1057519997
TP53
0.776 0.320 17 7676037 missense variant A/C;G;T snv 9
rs876659675
TP53
0.807 0.280 17 7674199 missense variant A/C;G;T snv 7
rs1057520004
TP53
0.752 0.240 17 7674884 missense variant A/C;T snv 11
rs1057519938
PIK3CA
0.776 0.160 3 179203764 missense variant A/C;T snv 10
rs1057519983
TP53
0.724 0.360 17 7673797 missense variant A/G snv 16
rs1057519933
PIK3CA
0.790 0.240 3 179199156 missense variant A/G snv 11
rs1057519935
PIK3CA
0.790 0.240 3 179199157 missense variant A/G snv 11
rs1057519914
MTOR
0.851 0.240 1 11157174 missense variant A/G snv 4
rs1057519888
EGFR
0.925 0.080 7 55143386 missense variant A/G snv 3
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 2
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 1