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rs1057516686

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs1057516686(CAC;CAC)
Make rs1057516686(CAC;GG)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position7222865
GeneACADVL, MIR324
is asnp
is mentioned by
dbSNPrs1057516686
dbSNP (old)rs1057516686
ClinGenrs1057516686
ebirs1057516686
HLIrs1057516686
Exacrs1057516686
Gnomadrs1057516686
Varsomers1057516686
LitVarrs1057516686
Maprs1057516686
PheGenIrs1057516686
Biobankrs1057516686
1000 genomesrs1057516686
hgdprs1057516686
ensemblrs1057516686
gopubmedrs1057516686
geneviewrs1057516686
scholarrs1057516686
googlers1057516686
pharmgkbrs1057516686
gwascentralrs1057516686
openSNPrs1057516686
23andMers1057516686
23andMe allrs1057516686
SNPshotrs1057516686
SNPdbers1057516686
MSV3drs1057516686
GWAS Ctlgrs1057516686
Max Magnitude0
ClinVar
Risk rs1057516686(CAC;CAC)
Alt rs1057516686(CAC;CAC)
Reference Rs1057516686(GG;GG)
Significance Probable-Pathogenic
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.7126184_7126185delGGinsCAC
CLNSRC
CLNACC RCV000411230.1,