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rs794727761

From SNPedia

ClinVar
Risk rs794727761(;)
Alt rs794727761(;)
Reference rs794727761(CCGG;CCGG)
Significance Pathogenic
Disease Platyspondylic lethal skeletal dysplasia Torrance type
Variation info
Gene COL2A1
CLNDBN Platyspondylic lethal skeletal dysplasia Torrance type
Reversed 1
HGVS NC_000012.11:g.48367204_48367207delCCGG
CLNSRC
CLNACC RCV000179141.1,