Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587776650
NBN
0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 11
rs587782545
NBN
0.882 0.160 8 89947835 stop gained T/A snv 3.9E-05 2.1E-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
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
rs121908974
NBN
1.000 0.040 8 89958760 stop gained G/A;T snv 5.2E-05; 4.0E-06 2
rs1349928568
NBN
1.000 0.040 8 89955284 frameshift variant T/-;TT delins 2
rs142301194
NBN
1.000 0.040 8 89937024 splice donor variant A/C snv 8.0E-06 7.0E-06 2
rs1554558613
NBN
1.000 0.040 8 89953690 stop gained C/A snv 2
rs1554559323
NBN
1.000 0.040 8 89955509 stop gained G/A snv 2
rs1554562083
NBN
1.000 0.040 8 89964409 splice donor variant C/A snv 2
rs1554562185
NBN
1.000 0.040 8 89964487 frameshift variant G/- delins 2
rs1554564297
NBN
1.000 0.040 8 89971272 frameshift variant ATCAAGAGGTGGG/CAA delins 2
rs1554567892
NBN
1.000 0.040 8 89980769 frameshift variant G/- del 2
rs1554568427
NBN
0.925 0.240 8 89981520 stop gained G/A snv 2
rs1554569106
NBN
1.000 0.040 8 89982804 frameshift variant TTTCCTT/- delins 2
rs200287925
NBN
1.000 0.040 8 89982766 stop gained G/A snv 3.2E-05 6.3E-05 2