NBN, nibrin, 4683

N. diseases: 291; N. variants: 194
Disease: Childhood Acute Lymphoblastic 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: rs61754966
rs61754966 		0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.720 1.000 2 2013 2014
dbSNP: rs12721593
rs12721593 		1.000 0.120 8 89981417 missense variant G/A snv 5.8E-04 1.2E-04
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs61753720
rs61753720 		1.000 0.120 8 89981412 missense variant C/A;G;T snv 1.7E-03 1.8E-03
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic 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: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2011 2015
dbSNP: rs34767364
rs34767364 		0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2001 2006
dbSNP: rs2735383
rs2735383 		0.708 0.360 8 89935041 3 prime UTR variant C/G snv 0.31
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2011 2011