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rs794727904

From SNPedia

ClinVar
Risk rs794727904(;)
Alt rs794727904(;)
Reference rs794727904(GCAGCTGTGAC;GCAGCTGTGAC)
Significance Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51063685_51063695delGTCACAGCTGC
CLNSRC
CLNACC RCV000180166.2,