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rs1057516519

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516519(A;A)
Make rs1057516519(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position7223823
GeneACADVL, MIR324
is asnp
is mentioned by
dbSNPrs1057516519
dbSNP (old)rs1057516519
ClinGenrs1057516519
ebirs1057516519
HLIrs1057516519
Exacrs1057516519
Gnomadrs1057516519
Varsomers1057516519
Maprs1057516519
PheGenIrs1057516519
Biobankrs1057516519
1000 genomesrs1057516519
hgdprs1057516519
ensemblrs1057516519
gopubmedrs1057516519
geneviewrs1057516519
scholarrs1057516519
googlers1057516519
pharmgkbrs1057516519
gwascentralrs1057516519
openSNPrs1057516519
23andMers1057516519
23andMe allrs1057516519
SNPshotrs1057516519
SNPdbers1057516519
MSV3drs1057516519
GWAS Ctlgrs1057516519
Max Magnitude0
ClinVar
Risk rs1057516519(A;A)
Alt rs1057516519(A;A)
Reference Rs1057516519(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.7127142G>A
CLNSRC
CLNACC RCV000412097.1,