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rs794727847

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CGAGGCCC;CGAGGCCC) 0 common in clinvar
Make rs794727847(-;-)
Make rs794727847(-;AGGCCCCG)
Make rs794727847(AGGCCCCG;AGGCCCCG)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position41422636
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs794727847
dbSNP (old)rs794727847
ClinGenrs794727847
ebirs794727847
HLIrs794727847
Exacrs794727847
Gnomadrs794727847
Varsomers794727847
Maprs794727847
PheGenIrs794727847
Biobankrs794727847
1000 genomesrs794727847
hgdprs794727847
ensemblrs794727847
gopubmedrs794727847
geneviewrs794727847
scholarrs794727847
googlers794727847
pharmgkbrs794727847
gwascentralrs794727847
openSNPrs794727847
23andMers794727847
23andMe allrs794727847
SNP Nexus

SNPshotrs794727847
SNPdbers794727847
MSV3drs794727847
GWAS Ctlgrs794727847
Max Magnitude0
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,