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rs112368783

From SNPedia

ClinVar
Risk rs112368783(;)
Alt rs112368783(;)
Reference rs112368783(C;C)
Significance Pathogenic
Disease Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
Variation info
Gene POMP
CLNDBN Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
Reversed 0
HGVS NC_000013.10:g.29233227delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000000136.2,