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rs797045875

From SNPedia

ClinVar
Risk rs797045875(;)
Alt rs797045875(;)
Reference rs797045875(AGAA;AGAA)
Significance Pathogenic
Disease Microcephalic osteodysplastic primordial dwarfism type 2
Variation info
Gene PCNT
CLNDBN Microcephalic osteodysplastic primordial dwarfism type 2
Reversed 0
HGVS NC_000021.8:g.47773935_47773938delAAAG
CLNSRC
CLNACC RCV000193825.1,