rs574673404, NBN

N. diseases: 2
Disease: Nijmegen Breakage Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Nijmegen Breakage Syndrome
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
0.700 GeneticVariation CLINVAR Mild Nijmegen breakage syndrome phenotype due to alternative splicing. 16415040 2006
Nijmegen Breakage Syndrome
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
0.700 GeneticVariation CLINVAR Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. 9590180 1998