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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 (old)rs1057516818
ClinGenrs1057516818
ebirs1057516818
HLIrs1057516818
Exacrs1057516818
Gnomadrs1057516818
Varsomers1057516818
Maprs1057516818
PheGenIrs1057516818
Biobankrs1057516818
1000 genomesrs1057516818
hgdprs1057516818
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googlers1057516818
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openSNPrs1057516818
23andMers1057516818
23andMe allrs1057516818
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,