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: rs1394437421
rs1394437421
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Fertility defects revealing germline biallelic nonsense NBN mutations. 19105185 2009