NBN, nibrin, 4683

N. diseases: 291; N. variants: 194
Disease: Acute lymphocytic leukemia ×
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: rs587782545
rs587782545 		0.882 0.160 8 89947835 stop gained T/A snv 3.9E-05 2.1E-05
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs730881864
rs730881864 		0.882 0.160 8 89943297 stop gained G/A;C snv 2.4E-05; 4.0E-05
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs767215758
rs767215758 		0.882 0.160 8 89958819 stop gained G/A snv 8.0E-06
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs767454740
rs767454740 		0.882 0.320 8 89982736 frameshift variant AA/- delins 7.0E-06
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1805794
rs1805794 		0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2735383
rs2735383 		0.708 0.360 8 89935041 3 prime UTR variant C/G snv 0.31
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs34767364
rs34767364 		0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs61754966
rs61754966 		0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2004 2004