Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 10
rs483353077
BRCA2
1.000 13 32370470 frameshift variant TTT/AAAA;NNNN delins 3
rs1555599208
BRCA1
1.000 17 43115726 stop gained TTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA/- del 2
rs397507643
BRCA2
1.000 13 32337181 frameshift variant TTAA/- delins 2
rs121913469
ERBB2
0.763 0.240 17 39723966 missense variant TT/CC mnv 8
rs886037800
BRCA2
1.000 13 32338395 frameshift variant TT/-;TTT delins 2
rs1131692241
ERBB2
17 39723966 inframe deletion TGAGGGAAAACACAT/- delins 1
rs80357787
BRCA1
0.925 0.200 17 43091008 frameshift variant TC/- delins 4
rs886037785
BRCA1
1.000 17 43091708 frameshift variant TACCT/- delins 2
rs1555280073
BRCA2
13 32316454 start lost TAAAAATGCCTATTGG/- delins 1
rs886037803
BRCA2
1.000 13 32338188 frameshift variant TA/- delins 2
rs1057519932
PIK3CA
0.683 0.320 3 179234298 missense variant T/G snv 22
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/G snv 20
rs28904921
C11orf65 ; ATM
0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05 7
rs1057519045
FGFR2
0.851 0.160 10 121498522 missense variant T/G snv 6
rs1057519901
FGFR2
0.925 0.080 10 121498525 missense variant T/G snv 5
rs1057519717
ESR1
6 152098785 missense variant T/G snv 1
rs121912666
TP53
0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 24
rs753660142
TP53
0.708 0.280 17 7673782 missense variant T/C;G snv 1.6E-05 19
rs587780073
TP53
0.708 0.400 17 7674262 missense variant T/C;G snv 17
rs747342068
TP53
0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06 17
rs1057519999
TP53
0.763 0.160 17 7674247 missense variant T/C;G snv 12
rs730882026
TP53
0.742 0.440 17 7674256 missense variant T/C;G snv 12
rs121913272
PIK3CA
0.752 0.400 3 179210192 missense variant T/C;G snv 11
rs886039484
TP53
0.641 0.440 17 7674888 missense variant T/C;G snv 10