NBN, nibrin, 4683

N. diseases: 291; N. variants: 194
Disease: Nijmegen Breakage Syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs34767364
rs34767364 		0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.740 1.000 4 2006 2012
dbSNP: rs587776650
rs587776650 		0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.710 1.000 16 1998 2016
dbSNP: rs587780100
rs587780100 		1.000 0.040 8 89971174 frameshift variant TTTG/- delins 2.0E-05 2.1E-05
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.700 1.000 6 1998 2017
dbSNP: rs587781969
rs587781969 		1.000 0.040 8 89955538 frameshift variant G/- delins 2.4E-05 2.1E-05
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.700 1.000 6 1998 2015
dbSNP: rs142301194
rs142301194 		1.000 0.040 8 89937024 splice donor variant A/C snv 8.0E-06 7.0E-06
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.700 1.000 5 2004 2010
dbSNP: rs1554555782
rs1554555782 		1.000 0.040 8 89943296 frameshift variant CGAGCATGATGAGCTATTAGATC/- del
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.700 1.000 4 2004 2014
dbSNP: rs200287925
rs200287925 		1.000 0.040 8 89982766 stop gained G/A snv 3.2E-05 6.3E-05
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.700 1.000 3 2014 2016
dbSNP: rs864309670
rs864309670 		1.000 0.040 8 89970517 frameshift variant -/CC delins
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.700 1.000 3 1986 2006
dbSNP: rs876659521
rs876659521 		1.000 0.040 8 89958856 splice acceptor variant T/C;G snv 4.0E-06
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.700 1.000 3 1998 2015
dbSNP: rs1057517075
rs1057517075 		1.000 0.040 8 89946138 splice donor variant A/- del 7.0E-06
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.700 1.000 2 1998 2006
dbSNP: rs1057517104
rs1057517104 		1.000 0.040 8 89971172 splice donor variant C/A;G;T snv
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.700 1.000 2 1998 2006
dbSNP: rs1057517262
rs1057517262 		1.000 0.040 8 89937076 splice acceptor variant C/T snv
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.700 1.000 2 1998 2006
dbSNP: rs121908974
rs121908974 		1.000 0.040 8 89958760 stop gained G/A;T snv 5.2E-05; 4.0E-06
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.700 1.000 2 2004 2005
dbSNP: rs1394578008
rs1394578008 		1.000 0.040 8 89971291 splice acceptor variant C/T snv
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.700 1.000 2 1998 2006
dbSNP: rs1554560352
rs1554560352 		1.000 0.040 8 89958723 splice donor variant A/C snv
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.700 1.000 2 1998 2006
dbSNP: rs1563497529
rs1563497529 		1.000 0.040 8 89937022 splice donor variant TACCTAAAAAGAT/- delins
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.700 1.000 2 1998 2006
dbSNP: rs1563548315
rs1563548315 		1.000 0.040 8 89964407 splice region variant CTGTAC/- delins
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.700 1.000 2 1998 2006
dbSNP: rs574673404
rs574673404 		1.000 0.040 8 89984524 splice donor variant C/T snv 8.2E-06 2.1E-05
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.700 1.000 2 1998 2006
dbSNP: rs61753717
rs61753717 		1.000 0.040 8 89947893 splice acceptor variant C/T snv
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.700 1.000 2 1998 2006
dbSNP: rs730881857
rs730881857 		0.882 0.120 8 89943320 stop gained G/C snv 4.0E-06 1.4E-05
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.700 1.000 2 2012 2016
dbSNP: rs730881864
rs730881864 		0.882 0.160 8 89943297 stop gained G/A;C snv 2.4E-05; 4.0E-05
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.700 1.000 2 2016 2017
dbSNP: rs751567476
rs751567476 		1.000 0.040 8 89978325 splice acceptor variant T/A;C snv 1.2E-05
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.700 1.000 2 1998 2006
dbSNP: rs751570713
rs751570713 		1.000 0.040 8 89935609 stop gained G/C;T snv 4.0E-06
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.700 1.000 2 2005 2005
dbSNP: rs756363734
rs756363734 		1.000 0.040 8 89943252 splice donor variant C/A;T snv 8.0E-06
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.700 1.000 2 1998 2006
dbSNP: rs772005832
rs772005832 		1.000 0.040 8 89971292 splice acceptor variant T/C snv 4.0E-06
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.700 1.000 2 1998 2006