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rs864309669

From SNPedia

ClinVar
Risk rs864309669(T;T)
Alt rs864309669(T;T)
Reference rs864309669(;)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90982646dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000007357.4,