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rs773102942

From SNPedia

ClinVar
Risk rs773102942(T;T)
Alt rs773102942(T;T)
Reference Rs773102942(;)
Significance Pathogenic
Disease Holocarboxylase synthetase deficiency
Variation info
Gene HLCS
CLNDBN Holocarboxylase synthetase deficiency
Reversed 0
HGVS NC_000021.8:g.38309090dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000001990.4,