rs61754966, NBN

N. diseases: 23
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Aplastic Anemia
CUI: C0002874
Disease: Aplastic Anemia
0.720 CausalMutation CLINVAR
Childhood Acute Lymphoblastic Leukemia
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
0.720 GeneticVariation UNIPROT
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.070 GeneticVariation BEFREE I171V mutation was present in 17 cancer patients compared with only one in healthy individuals. 18280732 2008
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.040 GeneticVariation BEFREE I171V mutation was present in 17 cancer patients compared with only one in healthy individuals. 18280732 2008
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.060 GeneticVariation BEFREE A meta-analysis of all hitherto available studies did not reveal a difference in the prevalence of I171V</span> between breast cancer cases and controls (OR: 1.05; 95%CI: 0.64-1.74, P=0.9). 18049891 2008
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.060 GeneticVariation BEFREE A meta-analysis of all hitherto available studies did not reveal a difference in the prevalence of I171V</span> between breast cancer cases and controls (OR: 1.05; 95%CI: 0.64-1.74, P=0.9). 18049891 2008
Childhood Acute Lymphoblastic Leukemia
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
0.720 GeneticVariation BEFREE A rare polymorphic variant of NBS1 that resulted in an isoleucine to valine substitution at amino acid position 171 (I171V) was first identified in childhood acute lymphoblastic leukemia. 24830725 2014
leukemia
CUI: C0023418
Disease: leukemia
0.030 GeneticVariation BEFREE Additionally we confirmed the higher incidence of the p.I171V mutation in the leukemia group (7/220) than among controls (12/2400) (p<0.0001). 24093751 2013
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
0.020 GeneticVariation BEFREE Additionally we confirmed the higher incidence of the p.I171V mutation in the leukemia group (7/220) than among controls (12/2400) (p<0.0001). 24093751 2013
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.070 GeneticVariation BEFREE Although an increased frequency of both mutations in cancer cases - 0.8% of 657del5 and 2.4% of I171V, compared to controls - 0.52% and 1.38%, respectively, was found, the differences were not statistically significant. 17695489 2007
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.040 GeneticVariation BEFREE Although an increased frequency of both mutations in cancer cases - 0.8% of 657del5 and 2.4% of I171V, compared to controls - 0.52% and 1.38%, respectively, was found, the differences were not statistically significant. 17695489 2007
Solid Neoplasm
CUI: C0280100
Disease: Solid Neoplasm
0.010 GeneticVariation BEFREE Among children with solid tumors only in 1 child with medulloblastoma I171V variant has been found. 21436738 2011
Childhood Medulloblastoma
CUI: C0278510
Disease: Childhood Medulloblastoma
0.020 GeneticVariation BEFREE Among children with solid tumors only in 1 child with medulloblastoma I171V variant has been found. 21436738 2011
Adult Medulloblastoma
CUI: C0278876
Disease: Adult Medulloblastoma
0.020 GeneticVariation BEFREE Among children with solid tumors only in 1 child with medulloblastoma I171V variant has been found. 21436738 2011
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
0.020 GeneticVariation BEFREE Among children with solid tumors only in 1 child with medulloblastoma I171V variant has been found. 21436738 2011
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.070 GeneticVariation BEFREE Among these, an association with cancer was found most frequently for 657del5 (in leukemia/lymphoma and breast cancer) and I171V (in leukemia, breast, head and neck and colorectal cancers); however, other studies gave contradictory results. 18606567 2008
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.040 GeneticVariation BEFREE Among these, an association with cancer was found most frequently for 657del5 (in leukemia/lymphoma and breast cancer) and I171V (in leukemia, breast, head and neck and colorectal cancers); however, other studies gave contradictory results. 18606567 2008
leukemia
CUI: C0023418
Disease: leukemia
0.030 GeneticVariation BEFREE Among these, an association with cancer was found most frequently for 657del5 (in leukemia/lymphoma and breast cancer) and I171V (in leukemia, breast, head and neck and colorectal cancers); however, other studies gave contradictory results. 18606567 2008
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
0.020 GeneticVariation BEFREE Among these, an association with cancer was found most frequently for 657del5 (in leukemia/lymphoma and breast cancer) and I171V (in leukemia, breast, head and neck and colorectal cancers); however, other studies gave contradictory results. 18606567 2008
Lymphoma
CUI: C0024299
Disease: Lymphoma
0.010 GeneticVariation BEFREE Among these, an association with cancer was found most frequently for 657del5 (in leukemia/lymphoma and breast cancer) and I171V (in leukemia, breast, head and neck and colorectal cancers); however, other studies gave contradictory results. 18606567 2008
Adult Lymphoma
CUI: C1332206
Disease: Adult Lymphoma
0.010 GeneticVariation BEFREE Among these, an association with cancer was found most frequently for 657del5 (in leukemia/lymphoma and breast cancer) and I171V (in leukemia, breast, head and neck and colorectal cancers); however, other studies gave contradictory results. 18606567 2008
Childhood Lymphoma
CUI: C1332979
Disease: Childhood Lymphoma
0.010 GeneticVariation BEFREE Among these, an association with cancer was found most frequently for 657del5 (in leukemia/lymphoma and breast cancer) and I171V (in leukemia, breast, head and neck and colorectal cancers); however, other studies gave contradictory results. 18606567 2008
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.060 GeneticVariation BEFREE Among these, an association with cancer was found most frequently for 657del5 (in leukemia/lymphoma and breast cancer) and I171V (in leukemia, breast, head and neck and colorectal cancers); however, other studies gave contradictory results. 18606567 2008
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.060 GeneticVariation BEFREE Among these, an association with cancer was found most frequently for 657del5 (in leukemia/lymphoma and breast cancer) and I171V (in leukemia, breast, head and neck and colorectal cancers); however, other studies gave contradictory results. 18606567 2008
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.020 GeneticVariation BEFREE Among these, an association with cancer was found most frequently for 657del5 (in leukemia/lymphoma and breast cancer) and I171V (in leukemia, breast, head and neck and colorectal cancers); however, other studies gave contradictory results. 18606567 2008