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rs1057516818

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516818(A;A)
Make rs1057516818(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position7223643
GeneACADVL, MIR324
is asnp
is mentioned by
dbSNPrs1057516818
dbSNP (classic)rs1057516818
ClinGenrs1057516818
ebirs1057516818
HLIrs1057516818
Exacrs1057516818
Gnomadrs1057516818
Varsomers1057516818
LitVarrs1057516818
Maprs1057516818
PheGenIrs1057516818
Biobankrs1057516818
1000 genomesrs1057516818
hgdprs1057516818
ensemblrs1057516818
geneviewrs1057516818
scholarrs1057516818
googlers1057516818
pharmgkbrs1057516818
gwascentralrs1057516818
openSNPrs1057516818
23andMers1057516818
SNPshotrs1057516818
SNPdbers1057516818
MSV3drs1057516818
GWAS Ctlgrs1057516818
Max Magnitude0
ClinVar
Risk rs1057516818(A;A)
Alt rs1057516818(A;A)
Reference Rs1057516818(G;G)
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.7126962G>A
CLNSRC
CLNACC RCV000409279.1,