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rs796051938

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CGTA;CGTA) 0 common in clinvar
Make rs796051938(-;-)
Make rs796051938(-;TACG)
Make rs796051938(TACG;TACG)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position41422178
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs796051938
dbSNP (old)rs796051938
ClinGenrs796051938
ebirs796051938
HLIrs796051938
Exacrs796051938
Varsomers796051938
Maprs796051938
PheGenIrs796051938
Biobankrs796051938
1000 genomesrs796051938
hgdprs796051938
ensemblrs796051938
gopubmedrs796051938
geneviewrs796051938
scholarrs796051938
googlers796051938
pharmgkbrs796051938
gwascentralrs796051938
openSNPrs796051938
23andMers796051938
23andMe allrs796051938
SNP Nexus

SNPshotrs796051938
SNPdbers796051938
MSV3drs796051938
GWAS Ctlgrs796051938
Max Magnitude0
ClinVar
Risk rs796051938(-;-)
Alt rs796051938(-;-)
Reference Rs796051938(CGTA;CGTA)
Significance Pathogenic
Disease not provided Maple syrup urine disease
Variation info
Gene BCKDHA
CLNDBN not provided Maple syrup urine disease
Reversed 0
HGVS NC_000019.9:g.41928083_41928086delTACG
CLNSRC
CLNACC RCV000185796.1, RCV000408793.1,