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rs797044446

From SNPedia

ClinVar
Risk rs797044446(;)
Alt rs797044446(;)
Reference rs797044446(AGG;AGG)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene PLOD1
CLNDBN Ehlers-Danlos syndrome, hydroxylysine-deficient
Reversed 0
HGVS NC_000001.10:g.12026317_12026319delGAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000015443.24,