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rs773048903

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs773048903(A;A)
Make rs773048903(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position41414149
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs773048903
dbSNP (classic)rs773048903
ClinGenrs773048903
ebirs773048903
HLIrs773048903
Exacrs773048903
Gnomadrs773048903
Varsomers773048903
LitVarrs773048903
Maprs773048903
PheGenIrs773048903
Biobankrs773048903
1000 genomesrs773048903
hgdprs773048903
ensemblrs773048903
geneviewrs773048903
scholarrs773048903
googlers773048903
pharmgkbrs773048903
gwascentralrs773048903
openSNPrs773048903
23andMers773048903
SNPshotrs773048903
SNPdbers773048903
MSV3drs773048903
GWAS Ctlgrs773048903
Max Magnitude0
ClinVar
Risk rs773048903(A;A)
Alt rs773048903(A;A)
Reference Rs773048903(G;G)
Significance Pathogenic
Disease Maple syrup urine disease
Variation info
Gene BCKDHA
CLNDBN Maple syrup urine disease
Reversed 0
HGVS NC_000019.9:g.41920054G>A
CLNSRC
CLNACC RCV000209016.1,