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rs797045542

From SNPedia

ClinVar
Risk rs797045542(TGC;TGC)
Alt rs797045542(TGC;TGC)
Reference Rs797045542(;)
Significance Probable-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.48382360_48382362dupCTG
CLNSRC
CLNACC RCV000192563.1,