Source: ALL
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 214
rs1057518636
BRCA1
1.000 17 43047646 frameshift variant -/A ins 3
rs397516979
ERBB2 ; MIR4728
1.000 0.080 17 39724744 protein altering variant -/TCT;TGT;TTT ins 2
rs397508979
BRCA1
17 43092974 frameshift variant -/GAAAAGTGAA ins 1
rs886037788
BRCA1
17 43091461 frameshift variant -/TCAA ins 1
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs727503094
LRRC56 ; HRAS
0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs121913469
ERBB2
0.763 0.240 17 39723966 missense variant TT/CC mnv 11
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs80359550
BRCA2
0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04 8
rs587776416
PALB2
0.882 0.240 16 23629986 frameshift variant AT/- del 6.4E-05 2.1E-05 5
rs587782780
BRCA2
0.925 0.200 13 32336414 frameshift variant GATTA/- del 4.0E-06 4
rs80357772
BRCA1
0.925 0.200 17 43094549 frameshift variant AT/- del 4
rs1057517590
BRCA1
1.000 17 43063370 frameshift variant A/- del 2
rs121913292
PTEN
1.000 0.080 10 87933148 frameshift variant G/- del 2
rs1555282830
BRCA2
1.000 13 32337109 frameshift variant C/- del 2
rs1555599208
BRCA1
1.000 17 43115726 stop gained TTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA/- del 2
rs886037784
BRCA1
1.000 17 43099803 frameshift variant A/- del 2
rs886037799
BRCA2
1.000 13 32338503 frameshift variant AT/- del 2
rs886037805
BRCA2
1.000 13 32398266 frameshift variant G/- del 2
rs1555284442
BRCA2
13 32340234 frameshift variant G/- del 1
rs1555444543
HERC2
15 28260816 inframe deletion GTCCAGTCCTGGCAA/- del 1
rs1555913881
CHEK2
22 28695841 frameshift variant T/- del 1
rs886037789
BRCA1
17 43071159 frameshift variant T/- del 1
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 10