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rs797045867

From SNPedia

ClinVar
Risk rs797045867(CAAAT;CAAAT)
Alt rs797045867(CAAAT;CAAAT)
Reference rs797045867(;)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2577410_2577414dupATCAA
CLNSRC
CLNACC RCV000194563.1,