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rs118204015

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118204015(A;C)
Make rs118204015(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position7223199
GeneACADVL, MIR324
is asnp
is mentioned by
dbSNPrs118204015
ebirs118204015
HLIrs118204015
Exacrs118204015
Varsomers118204015
Maprs118204015
PheGenIrs118204015
hapmaprs118204015
1000 genomesrs118204015
hgdprs118204015
ensemblrs118204015
gopubmedrs118204015
geneviewrs118204015
scholarrs118204015
googlers118204015
pharmgkbrs118204015
gwascentralrs118204015
openSNPrs118204015
23andMers118204015
23andMe allrs118204015
SNP Nexus

SNPshotrs118204015
SNPdbers118204015
MSV3drs118204015
GWAS Ctlgrs118204015
Max Magnitude0
OMIM609575
Desc
Variant0008
Relatedalso
ClinVar
Risk rs118204015(C;C)
Alt rs118204015(C;C)
Reference rs118204015(A;A)
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.7126518A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001695.3,