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rs1057517386

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517386(A;A)
Make rs1057517386(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position7224479
GeneACADVL, MIR324
is asnp
is mentioned by
dbSNPrs1057517386
dbSNP (old)rs1057517386
ClinGenrs1057517386
ebirs1057517386
HLIrs1057517386
Exacrs1057517386
Gnomadrs1057517386
Varsomers1057517386
Maprs1057517386
PheGenIrs1057517386
Biobankrs1057517386
1000 genomesrs1057517386
hgdprs1057517386
ensemblrs1057517386
gopubmedrs1057517386
geneviewrs1057517386
scholarrs1057517386
googlers1057517386
pharmgkbrs1057517386
gwascentralrs1057517386
openSNPrs1057517386
23andMers1057517386
23andMe allrs1057517386
SNPshotrs1057517386
SNPdbers1057517386
MSV3drs1057517386
GWAS Ctlgrs1057517386
Max Magnitude0
ClinVar
Risk rs1057517386(A;A)
Alt rs1057517386(A;A)
Reference Rs1057517386(G;G)
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.7127798G>A
CLNSRC
CLNACC RCV000411804.1,