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rs1057517281

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(AGG;AGG) 0 common in clinvar
Make rs1057517281(-;-)
Make rs1057517281(-;GAG)
Make rs1057517281(GAG;GAG)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position7223196
GeneACADVL, MIR324
is asnp
is mentioned by
dbSNPrs1057517281
dbSNP (old)rs1057517281
ClinGenrs1057517281
ebirs1057517281
HLIrs1057517281
Exacrs1057517281
Gnomadrs1057517281
Varsomers1057517281
Maprs1057517281
PheGenIrs1057517281
Biobankrs1057517281
1000 genomesrs1057517281
hgdprs1057517281
ensemblrs1057517281
gopubmedrs1057517281
geneviewrs1057517281
scholarrs1057517281
googlers1057517281
pharmgkbrs1057517281
gwascentralrs1057517281
openSNPrs1057517281
23andMers1057517281
23andMe allrs1057517281
SNPshotrs1057517281
SNPdbers1057517281
MSV3drs1057517281
GWAS Ctlgrs1057517281
Max Magnitude0
ClinVar
Risk rs1057517281(-;-)
Alt rs1057517281(-;-)
Reference Rs1057517281(AGG;AGG)
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.7126515_7126517delGAG
CLNSRC
CLNACC RCV000409783.1,