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rs797045544

From SNPedia

ClinVar
Risk rs797045544(GATA;GATA)
Alt rs797045544(GATA;GATA)
Reference rs797045544(;)
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.48385404_48385407dupGATA
CLNSRC
CLNACC RCV000194606.1,