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rs797044754

From SNPedia

ClinVar
Risk rs797044754(G;G)
Alt rs797044754(G;G)
Reference rs797044754(;)
Significance Pathogenic
Disease Spondyloepimetaphyseal dysplasia
Variation info
Gene MMP13
CLNDBN Spondyloepimetaphyseal dysplasia, Missouri type
Reversed 1
HGVS NC_000011.9:g.102822768dupC
CLNSRC
CLNACC RCV000178865.1,