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rs398123092

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123092(A;C)
Make rs398123092(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position7222175
GeneACADVL
is asnp
is mentioned by
dbSNPrs398123092
ebirs398123092
HLIrs398123092
Exacrs398123092
Varsomers398123092
Maprs398123092
PheGenIrs398123092
hapmaprs398123092
1000 genomesrs398123092
hgdprs398123092
ensemblrs398123092
gopubmedrs398123092
geneviewrs398123092
scholarrs398123092
googlers398123092
pharmgkbrs398123092
gwascentralrs398123092
openSNPrs398123092
23andMers398123092
23andMe allrs398123092
SNP Nexus

SNPshotrs398123092
SNPdbers398123092
MSV3drs398123092
GWAS Ctlgrs398123092
Max Magnitude0
ClinVar
Risk rs398123092(C;C)
Alt rs398123092(C;C)
Reference rs398123092(A;A)
Significance Pathogenic
Disease not provided Very long chain acyl-CoA dehydrogenase deficiency
Variation info
Gene ACADVL
CLNDBN not provided Very long chain acyl-CoA dehydrogenase deficiency
Reversed 0
HGVS NC_000017.10:g.7125494A>C
CLNSRC HGMD
CLNACC RCV000077923.3, RCV000180449.1,