rs61754966, NBN

N. diseases: 23
Disease: Aplastic Anemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Aplastic Anemia
CUI: C0002874
Disease: Aplastic Anemia
0.720 GeneticVariation BEFREE In earlier work, we had identified a remarkable number of structural chromosomal aberrations in a patient with pediatric aplastic anemia with a homozygous polymorphic variant of NBS1-I171V; however, it was unclear whether this variant affected DSB repair activity or chromosomal instability. 24830725 2014
Aplastic Anemia
CUI: C0002874
Disease: Aplastic Anemia
0.720 GeneticVariation BEFREE This is the first report of AA with a homozygous I171V mutation. 15338273 2004
Aplastic Anemia
CUI: C0002874
Disease: Aplastic Anemia
0.720 CausalMutation CLINVAR