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rs1057517416

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517416(-;-)
Make rs1057517416(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position7223168
GeneACADVL, MIR324
is asnp
is mentioned by
dbSNPrs1057517416
dbSNP (classic)rs1057517416
ClinGenrs1057517416
ebirs1057517416
HLIrs1057517416
Exacrs1057517416
Gnomadrs1057517416
Varsomers1057517416
LitVarrs1057517416
Maprs1057517416
PheGenIrs1057517416
Biobankrs1057517416
1000 genomesrs1057517416
hgdprs1057517416
ensemblrs1057517416
geneviewrs1057517416
scholarrs1057517416
googlers1057517416
pharmgkbrs1057517416
gwascentralrs1057517416
openSNPrs1057517416
23andMers1057517416
SNPshotrs1057517416
SNPdbers1057517416
MSV3drs1057517416
GWAS Ctlgrs1057517416
Max Magnitude0
ClinVar
Risk rs1057517416(-;-)
Alt rs1057517416(-;-)
Reference Rs1057517416(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.7126487delG
CLNSRC
CLNACC RCV000411060.1,