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rs1057516781

From SNPedia
ClinVar
Risk rs1057516781(-;-)
Alt rs1057516781(-;-)
Reference Rs1057516781(CGGCGGCTGC;CGGCGGCTGC)
Significance Probable-Pathogenic
Disease Maple syrup urine disease
Variation info
Gene BCKDHB
CLNDBN Maple syrup urine disease
Reversed 0
HGVS NC_000006.11:g.80816428_80816437delGGCTGCCGGC
CLNSRC
CLNACC RCV000411585.1,