Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587782545
rs587782545
NBN
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs730881864
rs730881864
NBN
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs767215758
rs767215758
NBN
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs767454740
rs767454740
NBN
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1805794
rs1805794
NBN
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 GeneticVariation BEFREE These findings suggest that E185Q polymorphism in NBS1 may be a genetic modifier for developing ALL. 21166880

2011
dbSNP: rs2735383
rs2735383
OSGIN2 ; NBN
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 GeneticVariation BEFREE Besides, there is no report about the association between NBS1 3'UTR variant rs2735383 and ALL risk. 21166880

2011
dbSNP: rs34767364
rs34767364
NBN
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 GeneticVariation BEFREE In addition, the substitution 643C>T (R215W) has also been found in excess among children with acute lymphoblastic leukemia (ALL). 16152606

2006
dbSNP: rs61754966
rs61754966
NBN
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 GeneticVariation BEFREE Four children with acute lymphoblastic leukemia have been reported to be heterozygous for a germline and/or somatic missense mutation in NBS1, leading to the I171V substitution. 15338273

2004