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rs373713279

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs373713279(A;A)
Make rs373713279(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position41422278
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs373713279
ebirs373713279
HLIrs373713279
Exacrs373713279
Varsomers373713279
Maprs373713279
PheGenIrs373713279
hapmaprs373713279
1000 genomesrs373713279
hgdprs373713279
ensemblrs373713279
gopubmedrs373713279
geneviewrs373713279
scholarrs373713279
googlers373713279
pharmgkbrs373713279
gwascentralrs373713279
openSNPrs373713279
23andMers373713279
23andMe allrs373713279
SNP Nexus

SNPshotrs373713279
SNPdbers373713279
MSV3drs373713279
GWAS Ctlgrs373713279
Max Magnitude0
ClinVar
Risk rs373713279(A;A)
Alt rs373713279(A;A)
Reference rs373713279(C;C)
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.41928183C>A
CLNSRC HGMD
CLNACC RCV000079253.3, RCV000179338.1,