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rs797045316

From SNPedia

ClinVar
Risk rs797045316(A;A)
Alt rs797045316(A;A)
Reference rs797045316(;)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 5
Variation info
Gene ASPM
CLNDBN Primary autosomal recessive microcephaly 5
Reversed 1
HGVS NC_000001.10:g.197070524dupT
CLNSRC
CLNACC RCV000192379.1,