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rs1057516772

From SNPedia

ClinVar
Risk rs1057516772(-;-)
Alt rs1057516772(-;-)
Reference Rs1057516772(ACCAACCTGGTA;ACCAACCTGGTA)
Significance Probable-Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90994947_90994958delTACCAGGTTGGT
CLNSRC
CLNACC RCV000409755.1,