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
rs70991108
MSH3 ; DHFR
0.807 0.280 5 80654344 intron variant -/TCGCGCGTCCCGCCCAGGT;TGGCGCGTCCCGCCCAGGT ins 0.51 6
rs1414323823
CYP1A1
0.851 0.160 15 74722772 frameshift variant -/TCTCGGT ins 4.0E-06 4
rs483353122
BRCA2
0.851 0.200 13 32363410 frameshift variant -/AG ins 4
rs587781985
BRIP1
0.882 0.280 17 61780342 frameshift variant -/C ins 4.0E-06 4
rs80359266
BRCA2
0.882 0.200 13 32332668 stop gained -/TTAG ins 3
rs878855134
BRIP1
0.925 0.200 17 61801374 frameshift variant -/AG ins 3
rs878855140
BRIP1
0.925 0.200 17 61780936 stop gained -/GTTGTTGAAATATCAATTTGATATA ins 3
rs3215684
PTPN1
0.925 0.080 20 50578329 intron variant -/T;TC ins 0.62 2
rs1060502772
PALB2
1.000 0.080 16 23635613 frameshift variant -/G ins 1
rs1567206823
PALB2
1.000 0.080 16 23607916 frameshift variant -/A ins 1
rs1569112324
CHEK2
1.000 0.080 22 28695222 frameshift variant -/G ins 1
rs730881612
BRCA2
1.000 0.080 13 32355233 frameshift variant -/G ins 1
rs878855159
BRIP1
1.000 0.080 17 61808494 frameshift variant -/A ins 1
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs386675647
UGT2B7
0.790 0.240 4 69098619 missense variant AT/TC mnv 10
rs796096871
AKAP10
0.807 0.200 17 19909228 missense variant TG/CA mnv 6
rs386654966
BARD1
0.882 0.080 2 214767531 missense variant CA/AG;TG mnv 3
rs587779358
BRCA2
0.925 0.200 13 32333295 stop gained CGA/TTT mnv 3
rs879255323
BRCA2
1.000 0.080 13 32332592 stop gained AATC/CATT mnv 1
rs3834129
CASP8
0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs80357796
BRCA1
0.752 0.240 17 43094464 frameshift variant T/- del 11