Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 20
rs587776650
NBN
0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 11
rs2735343
PTEN
0.790 0.240 10 87945672 non coding transcript exon variant G/C snv 0.39 11
rs770998368
ERCC5 ; BIVM-ERCC5
0.827 0.240 13 102861511 missense variant C/G;T snv 4.0E-06 5
rs1061302
NBN
0.827 0.160 8 89946194 synonymous variant T/C snv 0.35 0.30 5
rs11871753
BRIP1
0.851 0.120 17 61779284 intron variant A/G snv 0.75 4
rs16945628
BRIP1
0.851 0.120 17 61789868 intron variant T/C snv 0.60 4
rs587782545
NBN
0.882 0.160 8 89947835 stop gained T/A snv 3.9E-05 2.1E-05 4
rs730881857
NBN
0.882 0.120 8 89943320 stop gained G/C snv 4.0E-06 1.4E-05 4
rs730881864
NBN
0.882 0.160 8 89943297 stop gained G/A;C snv 2.4E-05; 4.0E-05 4
rs767215758
NBN
0.882 0.160 8 89958819 stop gained G/A snv 8.0E-06 4
rs767454740
NBN
0.882 0.320 8 89982736 frameshift variant AA/- delins 7.0E-06 4
rs7220719
BRIP1
0.882 0.120 17 61736921 intron variant A/G snv 0.73 3
rs886037979
BRCA1
0.925 0.040 17 43094747 stop gained G/A;C snv 2
rs1057516668
NBN
1.000 0.040 8 89946236 frameshift variant T/- delins 2
rs1057516772
NBN
1.000 0.040 8 89982719 splice region variant CAGGTTGGTTAC/- delins 2
rs1057517209
NBN
1.000 0.040 8 89958724 splice donor variant C/G;T snv 2
rs1060503467
NBN
1.000 0.040 8 89955282 splice donor variant C/- delins 2
rs1060503483
NBN
1.000 0.040 8 89953372 frameshift variant -/T delins 7.0E-06 2
rs1064793210
NBN
1.000 0.040 8 89984551 frameshift variant A/- del 7.0E-06 2
rs1178384498
NBN
1.000 0.040 8 89947853 frameshift variant CCTT/- delins 8.5E-06 7.0E-06 2
rs121908973
NBN
1.000 0.040 8 89964428 stop gained G/A;C snv 2