Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80359328
BRCA2
0.882 0.240 13 32336684 frameshift variant -/A delins 4
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs4646284
SLC22A1
0.925 0.080 6 160160511 downstream gene variant -/G delins 0.31 1
rs80359540
BRCA2
0.925 0.080 13 32340176 frameshift variant A/- delins 3
rs587781705
CHEK2
0.851 0.200 22 28734506 stop gained A/C snv 5
rs12500426
PDLIM5
0.851 0.240 4 94593458 intron variant A/C snv 0.54 3
rs193920894
SPOP ; LOC107984999
0.925 0.080 17 49619281 missense variant A/C snv 2
rs2069762
IL2
0.672 0.560 4 122456825 upstream gene variant A/C snv 0.24 2
rs6983561
PCAT1 ; CASC19
0.925 0.080 8 127094635 intron variant A/C snv 0.17 2
rs137852603
MXI1
1.000 0.080 10 110280017 missense variant A/C snv 1
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 15
rs2735839 0.827 0.160 19 50861367 upstream gene variant A/C;G snv 4
rs7127900 0.882 0.160 11 2212344 intergenic variant A/C;G snv 3
rs7130881
LOC105369367
0.882 0.160 11 69228491 intergenic variant A/C;G snv 3
rs147739031
CSMD1
1.000 0.080 8 3389886 intron variant A/C;G snv 1
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 3
rs121913396
CTNNB1
0.732 0.200 3 41224607 missense variant A/C;G;T snv 11
rs28897672
BRCA1
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 10
rs560596101
CHEK2
0.851 0.200 22 28725241 splice donor variant A/C;G;T snv 4.0E-06 5
rs17309872
ACSS2 ; GSS
0.925 0.080 20 34927985 downstream gene variant A/C;G;T snv 2
rs1447295
CASC8
0.658 0.400 8 127472793 intron variant A/C;T snv 3
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 3
rs7611694
SIDT1
0.925 0.080 3 113556777 intron variant A/C;T snv 2
rs1057519966
LOC107984999 ; SPOP
0.882 0.080 17 49619064 missense variant A/C;T snv 1
rs139591993
POLK
1.000 0.080 5 75596275 missense variant A/C;T snv 4.0E-06 1