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rs797045411

From SNPedia

ClinVar
Risk rs797045411(;)
Alt rs797045411(;)
Reference rs797045411(A;A)
Significance Probable-Pathogenic
Disease Maple syrup urine disease type 1B
Variation info
Gene BCKDHB
CLNDBN Maple syrup urine disease type 1B
Reversed 0
HGVS NC_000006.11:g.81053461delA
CLNSRC
CLNACC RCV000193073.1,