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rs397704725

From SNPedia

ClinVar
Risk rs397704725(;)
Alt rs397704725(;)
Reference rs397704725(GGCCAAGAGCCTGCCCT;GGCCAAGAGCCTGCCCT)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 2
Variation info
Gene WDR62
CLNDBN Primary autosomal recessive microcephaly 2
Reversed 0
HGVS NC_000019.9:g.36594569_36594585del17
CLNSRC OMIM Allelic Variant
CLNACC RCV000000061.4,