Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

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,