Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517075
rs1057517075
NBN
T 0.700 GeneticVariation CLINVAR Mild Nijmegen breakage syndrome phenotype due to alternative splicing. 16415040

2006
dbSNP: rs1057517075
rs1057517075
NBN
T 0.700 GeneticVariation CLINVAR Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. 9590180

1998