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rs797045311

From SNPedia

ClinVar
Risk rs797045311(T;T)
Alt rs797045311(T;T)
Reference rs797045311(;)
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.197097620dupA
CLNSRC
CLNACC RCV000194072.1,