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rs794727748

From SNPedia

ClinVar
Risk
Alt
Reference Rs794727748(ACCA;ACCA)
Significance Pathogenic
Disease Stickler syndrome type 1
Variation info
Gene COL2A1
CLNDBN Stickler syndrome type 1
Reversed 1
HGVS NC_000012.11:g.48369192_48369195delTGGT
CLNSRC
CLNACC RCV000179086.1,