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rs1057516226

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516226(-;-)
Make rs1057516226(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position7224822
GeneACADVL, MIR324
is asnp
is mentioned by
dbSNPrs1057516226
dbSNP (classic)rs1057516226
ClinGenrs1057516226
ebirs1057516226
HLIrs1057516226
Exacrs1057516226
Gnomadrs1057516226
Varsomers1057516226
LitVarrs1057516226
Maprs1057516226
PheGenIrs1057516226
Biobankrs1057516226
1000 genomesrs1057516226
hgdprs1057516226
ensemblrs1057516226
geneviewrs1057516226
scholarrs1057516226
googlers1057516226
pharmgkbrs1057516226
gwascentralrs1057516226
openSNPrs1057516226
23andMers1057516226
SNPshotrs1057516226
SNPdbers1057516226
MSV3drs1057516226
GWAS Ctlgrs1057516226
Max Magnitude0
ClinVar
Risk rs1057516226(-;-)
Alt rs1057516226(-;-)
Reference Rs1057516226(C;C)
Significance Probable-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.7128141delC
CLNSRC
CLNACC RCV000411935.1,