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rs864622775

From SNPedia

ClinVar
Risk
Alt
Reference Rs864622775(CGAGGCCTTCTCTGGC;CGAGGCCTTCTCTGGC)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148586631_148586646del16
CLNSRC
CLNACC RCV000206485.1,