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rs797045066

From SNPedia

ClinVar
Risk rs797045066(A;A)
Alt rs797045066(A;A)
Reference rs797045066(;)
Significance Pathogenic
Disease Macrocephaly/autism syndrome
Variation info
Gene PTEN
CLNDBN Macrocephaly/autism syndrome
Reversed 0
HGVS NC_000010.10:g.89725065dupA
CLNSRC Baylor College of Medicine
CLNACC RCV000191123.1,