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rs730880319

From SNPedia

ClinVar
Risk rs730880319(;)
Alt rs730880319(;)
Reference rs730880319(CAAGTGGTACGCA;CAAGTGGTACGCA)
Significance Pathogenic
Disease Severe combined immunodeficiency
Variation info
Gene ZAP70
CLNDBN Severe combined immunodeficiency, atypical
Reversed 0
HGVS NC_000002.11:g.98354247_98354259delAAGTGGTACGCAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000014164.27,