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rs118204017

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118204017(C;C)
Make rs118204017(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position7224007
GeneACADVL, MIR324
is asnp
is mentioned by
dbSNPrs118204017
ebirs118204017
HLIrs118204017
Exacrs118204017
Varsomers118204017
Maprs118204017
PheGenIrs118204017
hapmaprs118204017
1000 genomesrs118204017
hgdprs118204017
ensemblrs118204017
gopubmedrs118204017
geneviewrs118204017
scholarrs118204017
googlers118204017
pharmgkbrs118204017
gwascentralrs118204017
openSNPrs118204017
23andMers118204017
23andMe allrs118204017
SNP Nexus

SNPshotrs118204017
SNPdbers118204017
MSV3drs118204017
GWAS Ctlgrs118204017
Max Magnitude0
OMIM609575
Desc
Variant0012
Relatedalso
ClinVar
Risk rs118204017(C;C)
Alt rs118204017(C;C)
Reference rs118204017(T;T)
Significance Pathogenic
Disease Very long chain acyl-CoA dehydrogenase deficiency
Variation info
Gene MIR324 ACADVL
CLNDBN Very long chain acyl-CoA dehydrogenase deficiency
Reversed 0
HGVS NC_000017.10:g.7127326T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001699.2,