Have questions? Visit https://www.reddit.com/r/SNPedia

rs398123091

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 Carrier of a VLCAD deficiency mutation
(G;G) 0 common in clinvar


Make rs398123091(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position7221993
GeneACADVL, DLG4
is asnp
is mentioned by
dbSNPrs398123091
dbSNP (classic)rs398123091
ClinGenrs398123091
ebirs398123091
HLIrs398123091
Exacrs398123091
Gnomadrs398123091
Varsomers398123091
LitVarrs398123091
Maprs398123091
PheGenIrs398123091
Biobankrs398123091
1000 genomesrs398123091
hgdprs398123091
ensemblrs398123091
geneviewrs398123091
scholarrs398123091
googlers398123091
pharmgkbrs398123091
gwascentralrs398123091
openSNPrs398123091
23andMers398123091
SNPshotrs398123091
SNPdbers398123091
MSV3drs398123091
GWAS Ctlgrs398123091
Max Magnitude3
ClinVar
Risk rs398123091(A;A)
Alt rs398123091(A;A)
Reference Rs398123091(G;G)
Significance Probable-Pathogenic
Disease not provided Very long chain acyl-CoA dehydrogenase deficiency not specified
Variation info
Gene DLG4 ACADVL
CLNDBN not provided Very long chain acyl-CoA dehydrogenase deficiency not specified
Reversed 0
HGVS NC_000017.10:g.7125312G>A
CLNSRC HGMD
CLNACC RCV000077922.6, RCV000169301.1, RCV000259076.1,