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rs747831095

From SNPedia

ClinVar
Risk
Alt
Reference Rs747831095(C;C)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 3
Variation info
Gene CDK5RAP2
CLNDBN Primary autosomal recessive microcephaly 3
Reversed 0
HGVS NC_000009.11:g.123205949delC
CLNSRC
CLNACC RCV000207363.1,