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rs587777731

From SNPedia

ClinVar
Risk rs587777731(;)
Alt rs587777731(;)
Reference rs587777731(CGGCACCGA;CGGCACCGA)
Significance Pathogenic
Disease Severe congenital neutropenia 6 Severe congenital neutropenia
Variation info
Gene JAGN1
CLNDBN Severe congenital neutropenia 6, autosomal recessive Severe congenital neutropenia
Reversed 0
HGVS NC_000003.11:g.9932441_9932449delCCGACGGCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000144166.3, RCV000170607.1,