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rs387906409

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906409(A;A)
Make rs387906409(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position123053160
GeneACADSB
is asnp
is mentioned by
dbSNPrs387906409
ebirs387906409
HLIrs387906409
Exacrs387906409
Varsomers387906409
Maprs387906409
PheGenIrs387906409
hapmaprs387906409
1000 genomesrs387906409
hgdprs387906409
ensemblrs387906409
gopubmedrs387906409
geneviewrs387906409
scholarrs387906409
googlers387906409
pharmgkbrs387906409
gwascentralrs387906409
openSNPrs387906409
23andMers387906409
23andMe allrs387906409
SNP Nexus

SNPshotrs387906409
SNPdbers387906409
MSV3drs387906409
GWAS Ctlgrs387906409
Max Magnitude0
ClinVar
Risk rs387906409(A;A)
Alt rs387906409(A;A)
Reference rs387906409(G;G)
Significance Pathogenic
Disease Deficiency of 2-methylbutyryl-CoA dehydrogenase
Variation info
Gene ACADSB
CLNDBN Deficiency of 2-methylbutyryl-CoA dehydrogenase
Reversed 0
HGVS NC_000010.10:g.124812676G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009777.4,