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rs397516668

From SNPedia

ClinVar
Risk rs397516668(;)
Alt rs397516668(;)
Reference rs397516668(CCTCCAGGACCCCCAGGA;CCTCCAGGACCCCCAGGA)
Significance Pathogenic
Disease Hypohidrotic ectodermal dysplasia
Variation info
Gene EDA
CLNDBN Hypohidrotic ectodermal dysplasia
Reversed 0
HGVS NC_000023.10:g.69247752_69247769del18
CLNSRC ClinVar
CLNACC RCV000037178.2,