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rs118204018

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118204018(A;A)
Make rs118204018(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position7223707
GeneACADVL, MIR324
is asnp
is mentioned by
dbSNPrs118204018
dbSNP (classic)rs118204018
ClinGenrs118204018
ebirs118204018
HLIrs118204018
Exacrs118204018
Gnomadrs118204018
Varsomers118204018
LitVarrs118204018
Maprs118204018
PheGenIrs118204018
Biobankrs118204018
1000 genomesrs118204018
hgdprs118204018
ensemblrs118204018
geneviewrs118204018
scholarrs118204018
googlers118204018
pharmgkbrs118204018
gwascentralrs118204018
openSNPrs118204018
23andMers118204018
SNPshotrs118204018
SNPdbers118204018
MSV3drs118204018
GWAS Ctlgrs118204018
Max Magnitude0
OMIM609575
Desc
Variant0013
Relatedalso
ClinVar
Risk rs118204018(A;A) rs118204018(T;T)
Alt rs118204018(A;A) rs118204018(T;T)
Reference Rs118204018(G;G)
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.7127026G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001700.3,