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rs112406105

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs112406105(C;C)
Make rs112406105(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position7223152
GeneACADVL, MIR324
is asnp
is mentioned by
dbSNPrs112406105
dbSNP (classic)rs112406105
ClinGenrs112406105
ebirs112406105
HLIrs112406105
Exacrs112406105
Gnomadrs112406105
Varsomers112406105
LitVarrs112406105
Maprs112406105
PheGenIrs112406105
Biobankrs112406105
1000 genomesrs112406105
hgdprs112406105
ensemblrs112406105
geneviewrs112406105
scholarrs112406105
googlers112406105
pharmgkbrs112406105
gwascentralrs112406105
openSNPrs112406105
23andMers112406105
SNPshotrs112406105
SNPdbers112406105
MSV3drs112406105
GWAS Ctlgrs112406105
Max Magnitude0
ClinVar
Risk rs112406105(A;A) rs112406105(C;C)
Alt rs112406105(A;A) rs112406105(C;C)
Reference Rs112406105(G;G)
Significance Pathogenic
Disease not provided Very long chain acyl-CoA dehydrogenase deficiency
Variation info
Gene MIR324 ACADVL
CLNDBN not provided Very long chain acyl-CoA dehydrogenase deficiency
Reversed 0
HGVS NC_000017.10:g.7126471G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000185720.2, RCV000411732.1,