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rs387907333

From SNPedia

ClinVar
Risk rs387907333(TACCC;TACCC)
Alt rs387907333(TACCC;TACCC)
Reference rs387907333(GAGCTGATGCCGCTCG;GAGCTGATGCCGCTCG)
Significance Pathogenic
Disease Osteogenesis imperfecta type 7
Variation info
Gene CRTAP
CLNDBN Osteogenesis imperfecta type 7
Reversed 0
HGVS NC_000003.11:g.33155687_33155702del16insTACCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000034835.4,