Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104895046
rs104895046
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID. 20805886

2010
dbSNP: rs1060501923
rs1060501923
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR

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
dbSNP: rs1060501936
rs1060501936
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1060501941
rs1060501941
RAD50
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		T 0.700 GeneticVariation CLINVAR Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care. 26786923

2016
dbSNP: rs1060501941
rs1060501941
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1060501942
rs1060501942
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1060501949
rs1060501949
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. 19409520

2009
dbSNP: rs1060501949
rs1060501949
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Evaluation of RAD50 in familial breast cancer predisposition. 16385572

2006
dbSNP: rs1060501954
rs1060501954
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1060501970
rs1060501970
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1060501973
rs1060501973
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1064792948
rs1064792948
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AA 0.700 CausalMutation CLINVAR

dbSNP: rs121912628
rs121912628
RAD50
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		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
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		T 0.700 GeneticVariation CLINVAR Patterns and functional implications of rare germline variants across 12 cancer types. 26689913

2015
dbSNP: rs121912628
rs121912628
RAD50
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		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
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		T 0.700 GeneticVariation CLINVAR Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. 19409520

2009
dbSNP: rs121912628
rs121912628
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. 19409520

2009
dbSNP: rs121912628
rs121912628
RAD50
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121912629
rs121912629
RAD50 ; TH2LCRR
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1235022794
rs1235022794
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. 19409520

2009
dbSNP: rs1235022794
rs1235022794
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Evaluation of RAD50 in familial breast cancer predisposition. 16385572

2006
dbSNP: rs1236278956
rs1236278956
RAD50
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