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rs1057516795

From SNPedia
ClinVar
Risk rs1057516795(-;-)
Alt rs1057516795(-;-)
Reference Rs1057516795(CCTGGCGCGGG;CCTGGCGCGGG)
Significance Probable-Pathogenic
Disease Maple syrup urine disease
Variation info
Gene BCKDHB
CLNDBN Maple syrup urine disease
Reversed 0
HGVS NC_000006.11:g.80816489_80816499delCCTGGCGCGGG
CLNSRC
CLNACC RCV000410202.1,