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rs759632528

From SNPedia

ClinVar
Risk rs759632528(T;T)
Alt rs759632528(T;T)
Reference rs759632528(;)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 5
Variation info
Gene ASPM
CLNDBN Primary autosomal recessive microcephaly 5
Reversed 0
HGVS NC_000001.10:g.197087023_197087024insT
CLNSRC
CLNACC RCV000193074.1,