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rs794726656

From SNPedia

ClinVar
Risk rs794726656(;)
Alt rs794726656(;)
Reference rs794726656(GTTCTTCCTGTAGG;GTTCTTCCTGTAGG)
Significance Pathogenic
Disease Hyperphenylalaninemia
Variation info
Gene PTS
CLNDBN Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency
Reversed 0
HGVS NC_000011.9:g.112104201_112104214delGTTCTTCCTGTAGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000000507.3,