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rs797045546

From SNPedia

ClinVar
Risk rs797045546(T;T)
Alt rs797045546(T;T)
Reference rs797045546(CCGCC;CCGCC)
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.48385627_48385631delCCGCCinsT
CLNSRC
CLNACC RCV000193635.1,