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rs118204016

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118204016(A;A)
Make rs118204016(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position7223984
GeneACADVL, MIR324
is asnp
is mentioned by
dbSNPrs118204016
dbSNP (classic)rs118204016
ClinGenrs118204016
ebirs118204016
HLIrs118204016
Exacrs118204016
Gnomadrs118204016
Varsomers118204016
LitVarrs118204016
Maprs118204016
PheGenIrs118204016
Biobankrs118204016
1000 genomesrs118204016
hgdprs118204016
ensemblrs118204016
geneviewrs118204016
scholarrs118204016
googlers118204016
pharmgkbrs118204016
gwascentralrs118204016
openSNPrs118204016
23andMers118204016
SNPshotrs118204016
SNPdbers118204016
MSV3drs118204016
GWAS Ctlgrs118204016
Max Magnitude0
OMIM609575
Desc
Variant0010
Relatedalso
OMIM609575
Desc
Variant0014
Relatedalso
ClinVar
Risk rs118204016(A;A)
Alt rs118204016(A;A)
Reference Rs118204016(G;G)
Significance Other
Disease Very long chain acyl-CoA dehydrogenase deficiency
Variation info
Gene ACADVL MIR324
CLNDBN Very long chain acyl-CoA dehydrogenase deficiency
Reversed 0
HGVS NC_000017.10:g.7127303G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001701.4,