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rs74315103

From SNPedia

ClinVar
Risk rs74315103(;)
Alt rs74315103(;)
Reference rs74315103(CCCCCTGGT;CCCCCTGGT)
Significance Pathogenic
Disease Osteogenesis imperfecta with normal sclerae
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta with normal sclerae, dominant form
Reversed 0
HGVS NC_000007.13:g.94056950_94056958delTCCCCCTGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000018804.29,