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rs797045547

From SNPedia

ClinVar
Risk rs797045547(G;G)
Alt rs797045547(G;G)
Reference rs797045547(;)
Significance Pathogenic
Disease Chondrodysplasia punctata 2 X-linked dominant
Variation info
Gene EBP
CLNDBN Chondrodysplasia punctata 2 X-linked dominant
Reversed 0
HGVS NC_000023.10:g.48386636dupG
CLNSRC
CLNACC RCV000194874.1,