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rs2309689

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 Carrier of a VLCAD deficiency mutation
(G;G) 0 common in clinvar


Make rs2309689(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position7223865
GeneACADVL, MIR324
is asnp
is mentioned by
dbSNPrs2309689
dbSNP (classic)rs2309689
ClinGenrs2309689
ebirs2309689
HLIrs2309689
Exacrs2309689
Gnomadrs2309689
Varsomers2309689
LitVarrs2309689
Maprs2309689
PheGenIrs2309689
Biobankrs2309689
1000 genomesrs2309689
hgdprs2309689
ensemblrs2309689
geneviewrs2309689
scholarrs2309689
googlers2309689
pharmgkbrs2309689
gwascentralrs2309689
openSNPrs2309689
23andMers2309689
SNPshotrs2309689
SNPdbers2309689
MSV3drs2309689
GWAS Ctlgrs2309689
Max Magnitude3
? (A;A) (A;G) (G;G) 28


OMIM609575
Desc
Variant0009
Relatedalso


ClinVar
Risk rs2309689(A;A)
Alt rs2309689(A;A)
Reference Rs2309689(G;G)
Significance Pathogenic
Disease Very long chain acyl-CoA dehydrogenase deficiency not provided
Variation info
Gene MIR324 ACADVL
CLNDBN Very long chain acyl-CoA dehydrogenase deficiency not provided
Reversed 0
HGVS NC_000017.10:g.7127184G>A
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000020072.3, RCV000077903.4,