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rs797045545

From SNPedia

ClinVar
Risk rs797045545(AG;AG)
Alt rs797045545(AG;AG)
Reference rs797045545(CATCACAGCTT;CATCACAGCTT)
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.48385573_48385583delCATCACAGCTTinsAG
CLNSRC
CLNACC RCV000192822.1,