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rs878853218

From SNPedia

ClinVar
Risk rs878853218(;)
Alt rs878853218(;)
Reference rs878853218(AGTGGGGCTGGGAATTTCA;AGTGGGGCTGGGAATTTCA)
Significance Pathogenic
Disease Spondyloenchondrodysplasia with immune dysregulation
Variation info
Gene LOC101928434 ACP5
CLNDBN Spondyloenchondrodysplasia with immune dysregulation
Reversed 1
HGVS NC_000019.9:g.11686013_11686031del19
CLNSRC OMIM Allelic Variant
CLNACC RCV000210955.1,