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rs797045452

From SNPedia

ClinVar
Risk rs797045452(A;A)
Alt rs797045452(A;A)
Reference rs797045452(;)
Significance Pathogenic
Disease Seckel syndrome 4
Variation info
Gene CENPJ
CLNDBN Seckel syndrome 4
Reversed 1
HGVS NC_000013.10:g.25466990dupT
CLNSRC
CLNACC RCV000194172.1,