Source: ALL
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
rs6147150
ERBB4
0.827 0.160 2 211380365 3 prime UTR variant -/AAAATAGGATTG delins 5
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs28360317
XRCC4
0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 15
rs4646284
SLC22A1
0.925 0.080 6 160160511 downstream gene variant -/G delins 0.31 2
rs200182588
SMC2-AS1 ; SMC2
0.827 0.160 9 104094409 5 prime UTR variant -/GC ins 7.0E-06 6
rs3783553
IL1A
0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs80359540
BRCA2
0.925 0.080 13 32340176 frameshift variant A/- delins 3
rs2069762
IL2
0.672 0.560 4 122456825 upstream gene variant A/C snv 0.24 23
rs1204382931
CYP1B1 ; CYP1B1-AS1
0.790 0.160 2 38075270 missense variant A/C snv 4.3E-06 10
rs627928
RNASEL
0.790 0.080 1 182582202 missense variant A/C snv 0.54 0.49 10
rs2410373 0.851 0.120 8 16066997 intergenic variant A/C snv 0.34 6
rs12500426
PDLIM5
0.851 0.240 4 94593458 intron variant A/C snv 0.54 5
rs587781705
CHEK2
0.851 0.200 22 28734506 stop gained A/C snv 5
rs1902023
UGT2B15
0.882 0.080 4 68670366 missense variant A/C snv 0.51 0.53 4
rs3753793
CCN1 ; DDAH1
0.851 0.240 1 85580205 upstream gene variant A/C snv 0.26 4
rs8004379
NPAS3
0.851 0.120 14 33599495 intron variant A/C snv 0.12 4
rs2394882
POU5F1 ; TCF19
0.882 0.080 6 31164872 splice region variant A/C snv 0.64 0.69 3
rs6983561
PCAT1 ; CASC19
0.925 0.080 8 127094635 intron variant A/C snv 0.17 3
rs10761581
NCOA4
0.925 0.080 10 46027444 missense variant A/C snv 0.44 0.41 2
rs10920531 0.925 0.080 1 202939708 downstream gene variant A/C snv 0.57 2
rs16834898
PCGEM1
0.925 0.080 2 192772562 intron variant A/C snv 0.53 2
rs17886163
CHEK2
0.925 0.080 22 28695159 missense variant A/C snv 1.4E-03 5.4E-03 2
rs193920894
SPOP ; LOC107984999
0.925 0.080 17 49619281 missense variant A/C snv 2
rs3208008
RTEL1 ; TNFRSF6B ; RTEL1-TNFRSF6B
0.925 0.080 20 63694757 missense variant A/C snv 0.75 0.81 2