Gene: NBN ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587776650
rs587776650
NBN
11 0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 0.700 1.000 15 2000 2017
dbSNP: rs587781969
rs587781969
NBN
2 1.000 0.040 8 89955538 frameshift variant G/- delins 2.4E-05 2.1E-05 0.700 1.000 8 1998 2015
dbSNP: rs200287925
rs200287925
NBN
2 1.000 0.040 8 89982766 stop gained G/A snv 3.2E-05 6.3E-05 0.700 1.000 5 2014 2017
dbSNP: rs587780100
rs587780100
NBN
2 1.000 0.040 8 89971174 frameshift variant TTTG/- delins 2.0E-05 2.1E-05 0.700 1.000 4 1998 2017
dbSNP: rs730881857
rs730881857
NBN
4 0.882 0.120 8 89943320 stop gained G/C snv 4.0E-06 1.4E-05 0.700 1.000 3 2012 2016
dbSNP: rs786202490
rs786202490
NBN
2 1.000 0.040 8 89970451 frameshift variant AC/- delins 2.1E-05 0.700 1.000 3 2014 2016
dbSNP: rs587782545
rs587782545
NBN
4 0.882 0.160 8 89947835 stop gained T/A snv 3.9E-05 2.1E-05 0.700 1.000 2 2014 2017
dbSNP: rs1060503467
rs1060503467
NBN
2 1.000 0.040 8 89955282 splice donor variant C/- delins 0.700 1.000 1 2017 2017
dbSNP: rs121908973
rs121908973
NBN
2 1.000 0.040 8 89964428 stop gained G/A;C snv 0.700 1.000 1 1998 1998
dbSNP: rs1394437421
rs1394437421
NBN
1 8 89958725 stop gained C/G;T snv 4.0E-06 7.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs730881864
rs730881864
NBN
4 0.882 0.160 8 89943297 stop gained G/A;C snv 2.4E-05; 4.0E-05 0.700 1.000 1 2016 2016
dbSNP: rs767215758
rs767215758
NBN
4 0.882 0.160 8 89958819 stop gained G/A snv 8.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs876659521
rs876659521
NBN
2 1.000 0.040 8 89958856 splice acceptor variant T/C;G snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs1057516668
rs1057516668
NBN
2 1.000 0.040 8 89946236 frameshift variant T/- delins 0.700 0
dbSNP: rs1057516772
rs1057516772
NBN
2 1.000 0.040 8 89982719 splice region variant CAGGTTGGTTAC/- delins 0.700 0
dbSNP: rs1057517209
rs1057517209
NBN
2 1.000 0.040 8 89958724 splice donor variant C/G;T snv 0.700 0
dbSNP: rs1060503483
rs1060503483
NBN
2 1.000 0.040 8 89953372 frameshift variant -/T delins 7.0E-06 0.700 0
dbSNP: rs1064793210
rs1064793210
NBN
2 1.000 0.040 8 89984551 frameshift variant A/- del 7.0E-06 0.700 0
dbSNP: rs1064795816
rs1064795816
NBN
1 8 89943276 stop gained C/A snv 0.700 0
dbSNP: rs1178384498
rs1178384498
NBN
2 1.000 0.040 8 89947853 frameshift variant CCTT/- delins 8.5E-06 7.0E-06 0.700 0
dbSNP: rs1198614767
rs1198614767
NBN
1 8 89978239 stop gained G/A;C snv 0.700 0
dbSNP: rs1199711768
rs1199711768
NBN
1 8 89982817 frameshift variant -/A delins 0.700 0
dbSNP: rs121908974
rs121908974
NBN
2 1.000 0.040 8 89958760 stop gained G/A;T snv 5.2E-05; 4.0E-06 0.700 0
dbSNP: rs1349928568
rs1349928568
NBN
2 1.000 0.040 8 89955284 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs1364533250
rs1364533250
NBN
1 8 89981374 splice donor variant C/T snv 0.700 0