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rs398123515

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123515(A;A)
Make rs398123515(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position41422754
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs398123515
dbSNP (classic)rs398123515
ClinGenrs398123515
ebirs398123515
HLIrs398123515
Exacrs398123515
Gnomadrs398123515
Varsomers398123515
LitVarrs398123515
Maprs398123515
PheGenIrs398123515
Biobankrs398123515
1000 genomesrs398123515
hgdprs398123515
ensemblrs398123515
geneviewrs398123515
scholarrs398123515
googlers398123515
pharmgkbrs398123515
gwascentralrs398123515
openSNPrs398123515
23andMers398123515
SNPshotrs398123515
SNPdbers398123515
MSV3drs398123515
GWAS Ctlgrs398123515
Max Magnitude0
ClinVar
Risk rs398123515(A;A)
Alt rs398123515(A;A)
Reference Rs398123515(G;G)
Significance Other
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.41928659G>A
CLNSRC HGMD
CLNACC RCV000079269.3, RCV000179779.2,