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rs606231242

From SNPedia

ClinVar
Risk rs606231242(;)
Alt rs606231242(;)
Reference rs606231242(AGGTAGTGGAACTTCTGCA;AGGTAGTGGAACTTCTGCA)
Significance Pathogenic
Disease Spondyloepimetaphyseal dysplasia
Variation info
Gene PAPSS2
CLNDBN Spondyloepimetaphyseal dysplasia, pakistani type
Reversed 0
HGVS NC_000010.10:g.89474597_89474615del19
CLNSRC OMIM Allelic Variant
CLNACC RCV000032843.4,