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rs1057517414

From SNPedia

ClinVar
Risk rs1057517414(-;-)
Alt rs1057517414(-;-)
Reference Rs1057517414(CAGAGGCGGCA;CAGAGGCGGCA)
Significance Probable-Pathogenic
Disease Maple syrup urine disease
Variation info
Gene BCKDHB
CLNDBN Maple syrup urine disease
Reversed 0
HGVS NC_000006.11:g.80816549_80816559delCAGAGGCGGCA
CLNSRC
CLNACC RCV000411913.1,