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rs587784302

From SNPedia

ClinVar
Risk
Alt
Reference Rs587784302(GAGCAGACTTT;GAGCAGACTTT)
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.47786873_47786883delCAGACTTTGAG
CLNSRC
CLNACC RCV000147105.1,