Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs7335046 0.807 0.040 13 99389484 downstream gene variant G/C snv 0.80 7
rs801114 0.827 0.120 1 228862088 downstream gene variant T/G snv 0.48 5
rs59586681 0.851 0.040 20 2239664 intron variant A/G;T snv 0.34 4
rs142310826 1.000 0.040 4 178481702 intergenic variant T/A snv 1.7E-02 3
rs775248597
ATM
0.851 0.120 11 108229185 stop gained C/G;T snv 8.1E-06 5
rs778031266
ATM ; C11orf65
0.882 0.360 11 108316114 splice donor variant G/A snv 4.0E-06 4
rs749496294
ATRN
0.925 0.040 20 3562435 missense variant G/A snv 1.2E-05 1.4E-05 3
rs869025212
BAP1
0.827 0.200 3 52403428 frameshift variant G/- delins 6
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 10
rs80359601
BRCA2
0.807 0.360 13 32340890 frameshift variant -/A;NNNNNNNN ins 4.1E-06 8
rs3769823
CASP8
0.851 0.040 2 201258272 missense variant A/G snv 0.66 0.65 6
rs137853214
CCNH ; RASA1
0.925 0.040 5 87349304 missense variant G/T snv 2
rs137853216
CCNH ; RASA1
0.925 0.040 5 87349312 missense variant A/G snv 2
rs2151280
CDKN2B-AS1
0.701 0.360 9 22034720 non coding transcript exon variant G/A snv 0.46 16
rs768043782
CDKN2B ; CDKN2B-AS1
1.000 0.040 9 22005994 missense variant C/T snv 8.6E-06 2
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs893729101
CLPTM1L
1.000 0.040 5 1341708 missense variant T/C snv 2.1E-05 2
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv 23
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs2228529
ERCC6
0.925 0.080 10 49459059 missense variant T/C snv 0.22 0.19 4
rs2228527
ERCC6
0.925 0.080 10 49470323 missense variant T/C snv 0.22 0.20 3
rs13014235
FLACC1
0.851 0.040 2 201350769 missense variant C/G snv 0.62 0.63 5
rs700635
FLACC1
0.925 0.040 2 201288502 3 prime UTR variant C/A snv 0.72 3
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64