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
rs3215684
PTPN1
0.925 0.080 20 50578329 intron variant -/T;TC ins 0.62 2
rs10623258
ADSS1
1.000 0.080 14 104745924 non coding transcript exon variant -/TT ins 0.56 1
rs11374964
POGLUT3
1.000 0.080 11 108474788 3 prime UTR variant -/A ins 2.4E-05; 0.47 0.43 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
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv 72
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
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
rs80357796
BRCA1
0.752 0.240 17 43094464 frameshift variant T/- del 11
rs3838646
TTTY14
0.827 0.320 Y 18991182 intron variant CA/- del 8
rs80357678
BRCA1
0.851 0.200 17 43091614 frameshift variant AA/- del 5
rs112843513
TOPBP1
0.851 0.120 3 133600730 3 prime UTR variant G/- del 4
rs16405
BTRC
0.882 0.120 10 101553963 3 prime UTR variant AACAGTGGA/- del 0.31 4
rs868257011
PTEN
0.925 0.080 10 87961042 frameshift variant TACTT/- del 4
rs1555283031
BRCA2
0.925 0.080 13 32337423 frameshift variant ACAT/- del 2
rs1555616176
BRIP1
0.925 0.080 17 61849196 frameshift variant T/- del 2
rs6413441
IGFBP3
0.925 0.080 7 45915652 intron variant T/- del 0.57 2