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rs864309651

From SNPedia

ClinVar
Risk rs864309651(A;A)
Alt rs864309651(A;A)
Reference rs864309651(;)
Significance Pathogenic
Disease Spondyloepimetaphyseal dysplasia
Variation info
Gene RSPRY1
CLNDBN Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type
Reversed 0
HGVS NC_000016.9:g.57264628dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000203230.1,