NBN, nibrin, 4683

N. diseases: 291; N. variants: 194
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767215758
rs767215758
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs). 25677497 2015