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rs794728008

From SNPedia

ClinVar
Risk rs794728008(AGGCCCACCGTGA;AGGCCCACCGTGA)
Alt rs794728008(AGGCCCACCGTGA;AGGCCCACCGTGA)
Reference rs794728008(;)
Significance Pathogenic
Disease Prolidase deficiency
Variation info
Gene PEPD
CLNDBN Prolidase deficiency
Reversed 1
HGVS NC_000019.9:g.33954894_33954906dupTCACGGTGGGCCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000000241.2,