Have questions? Visit https://www.reddit.com/r/SNPedia

rs794727847

From SNPedia

ClinVar
Risk rs794727847(;)
Alt rs794727847(;)
Reference rs794727847(CGAGGCCC;CGAGGCCC)
Significance Pathogenic
Disease Maple syrup urine disease
Variation info
Gene BCKDHA
CLNDBN Maple syrup urine disease
Reversed 0
HGVS NC_000019.9:g.41928541_41928548delAGGCCCCG
CLNSRC
CLNACC RCV000179782.1,