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rs796051881

From SNPedia

ClinVar
Risk rs796051881(A;A)
Alt rs796051881(A;A)
Reference rs796051881(;)
Significance Pathogenic
Disease Rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata type 5
Variation info
Gene PEX5
CLNDBN Rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata type 5
Reversed 0
HGVS NC_000012.11:g.7354871dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000186575.1, RCV000202646.1,