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rs794728007

From SNPedia

ClinVar
Risk
Alt
Reference Rs794728007(ACT;ACT)
Significance Pathogenic
Disease Prolidase deficiency
Variation info
Gene PEPD
CLNDBN Prolidase deficiency
Reversed 1
HGVS NC_000019.9:g.33904528_33904530delGTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000000234.2,