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rs794726887

From SNPedia

ClinVar
Risk
Alt
Reference Rs794726887(CTGCTC;CTGCTC)
Significance Probable-Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene GALNS TRAPPC2L
CLNDBN Mucopolysaccharidosis, MPS-IV-A
Reversed 1
HGVS NC_000016.9:g.88923175_88923180delGAGCAG
CLNSRC
CLNACC RCV000173142.1,