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rs797045315

From SNPedia

ClinVar
Risk rs797045315(T;T)
Alt rs797045315(T;T)
Reference rs797045315(;)
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.197071073dupA
CLNSRC
CLNACC RCV000193254.1,