rs767215758, NBN

N. diseases: 4
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 Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs). 25677497 2015
Nijmegen Breakage Syndrome
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
0.700 CausalMutation CLINVAR Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs). 25677497 2015