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rs387906253

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906253(A;C)
Make rs387906253(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position7222068
GeneACADVL
is asnp
is mentioned by
dbSNPrs387906253
ebirs387906253
HLIrs387906253
Exacrs387906253
Varsomers387906253
Maprs387906253
PheGenIrs387906253
hapmaprs387906253
1000 genomesrs387906253
hgdprs387906253
ensemblrs387906253
gopubmedrs387906253
geneviewrs387906253
scholarrs387906253
googlers387906253
pharmgkbrs387906253
gwascentralrs387906253
openSNPrs387906253
23andMers387906253
23andMe allrs387906253
SNP Nexus

SNPshotrs387906253
SNPdbers387906253
MSV3drs387906253
GWAS Ctlgrs387906253
Max Magnitude0
ClinVar
Risk rs387906253(C;C)
Alt rs387906253(C;C)
Reference rs387906253(A;A)
Significance Pathogenic
Disease Very long chain acyl-CoA dehydrogenase deficiency
Variation info
Gene ACADVL
CLNDBN Very long chain acyl-CoA dehydrogenase deficiency
Reversed 0
HGVS NC_000017.10:g.7125387A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001698.3,