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rs864309670

From SNPedia

ClinVar
Risk rs864309670(GG;GG)
Alt rs864309670(GG;GG)
Reference rs864309670(;)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90982746_90982747dupCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000007364.4,