Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060501933
rs1060501933
RAD50 ; TH2LCRR
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Human RAD50 makes a functional DNA-binding complex. 25828805

2015
dbSNP: rs1060501933
rs1060501933
RAD50 ; TH2LCRR
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study. 24894818

2014
dbSNP: rs1060501933
rs1060501933
RAD50 ; TH2LCRR
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Structural biology of Rad50 ATPase: ATP-driven conformational control in DNA double-strand break repair and the ABC-ATPase superfamily. 10892749

2000