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rs797044567

From SNPedia

ClinVar
Risk rs797044567(T;T)
Alt rs797044567(T;T)
Reference rs797044567(;)
Significance Pathogenic
Disease Severe congenital neutropenia 4
Variation info
Gene G6PC3
CLNDBN Severe congenital neutropenia 4, autosomal recessive
Reversed 0
HGVS NC_000017.10:g.42153305dupT
CLNSRC
CLNACC RCV000192090.1,