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rs113994169

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994169(C;T)
Make rs113994169(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position7223687
GeneACADVL
is asnp
is mentioned by
dbSNPrs113994169
ebirs113994169
HLIrs113994169
Exacrs113994169
Varsomers113994169
Maprs113994169
PheGenIrs113994169
hapmaprs113994169
1000 genomesrs113994169
hgdprs113994169
ensemblrs113994169
gopubmedrs113994169
geneviewrs113994169
scholarrs113994169
googlers113994169
pharmgkbrs113994169
gwascentralrs113994169
openSNPrs113994169
23andMers113994169
23andMe allrs113994169
SNP Nexus

SNPshotrs113994169
SNPdbers113994169
MSV3drs113994169
GWAS Ctlgrs113994169
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs113994169(G,T;G,T)
Alt rs113994169(G,T;G,T)
Reference rs113994169(C;C)
Significance Pathogenic
Disease Very long chain acyl-CoA dehydrogenase deficiency not specified
Variation info
Gene MIR324 ACADVL
CLNDBN Very long chain acyl-CoA dehydrogenase deficiency not specified
Reversed 0
HGVS NC_000017.10:g.7127006C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020069.1, RCV000185722.1,


OMIM201475
Desc
Variant
Relatedalso