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rs376456598

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs376456598(A;A)
Make rs376456598(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position41410665
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs376456598
dbSNP (classic)rs376456598
ClinGenrs376456598
ebirs376456598
HLIrs376456598
Exacrs376456598
Gnomadrs376456598
Varsomers376456598
LitVarrs376456598
Maprs376456598
PheGenIrs376456598
Biobankrs376456598
1000 genomesrs376456598
hgdprs376456598
ensemblrs376456598
geneviewrs376456598
scholarrs376456598
googlers376456598
pharmgkbrs376456598
gwascentralrs376456598
openSNPrs376456598
23andMers376456598
23andMe allrs376456598
SNPshotrs376456598
SNPdbers376456598
MSV3drs376456598
GWAS Ctlgrs376456598
Max Magnitude0
ClinVar
Risk rs376456598(A;A)
Alt rs376456598(A;A)
Reference Rs376456598(C;C)
Significance Probable-Pathogenic
Disease Maple syrup urine disease
Variation info
Gene BCKDHA
CLNDBN Maple syrup urine disease
Reversed 0
HGVS NC_000019.9:g.41916570C>A
CLNSRC
CLNACC RCV000409408.1,