Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912628
rs121912628
RAD50
T 0.700 GeneticVariation CLINVAR The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies. 28376765

2017
dbSNP: rs121912628
rs121912628
RAD50
T 0.700 GeneticVariation CLINVAR Patterns and functional implications of rare germline variants across 12 cancer types. 26689913

2015
dbSNP: rs121912628
rs121912628
RAD50
T 0.700 GeneticVariation CLINVAR Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways. 21778326

2011
dbSNP: rs121912628
rs121912628
RAD50
T 0.700 GeneticVariation CLINVAR Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. 19409520

2009
dbSNP: rs121912628
rs121912628
RAD50
T 0.700 CausalMutation CLINVAR