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

rs28934585

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs28934585(C;T)
Make rs28934585(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position7220519
GeneACADVL, DLG4
is asnp
is mentioned by
dbSNPrs28934585
ebirs28934585
HLIrs28934585
Exacrs28934585
Varsomers28934585
Maprs28934585
PheGenIrs28934585
hapmaprs28934585
1000 genomesrs28934585
hgdprs28934585
ensemblrs28934585
gopubmedrs28934585
geneviewrs28934585
scholarrs28934585
googlers28934585
pharmgkbrs28934585
gwascentralrs28934585
openSNPrs28934585
23andMers28934585
23andMe allrs28934585
SNP Nexus

SNPshotrs28934585
SNPdbers28934585
MSV3drs28934585
GWAS Ctlgrs28934585
GMAF0.03076
Max Magnitude0
OMIM609575
Desc
Variant0011
Relatedalso


ClinVar
Risk rs28934585(T;T)
Alt rs28934585(T;T)
Reference rs28934585(C;C)
Significance Pathogenic
Disease Very long chain acyl-CoA dehydrogenase deficiency not specified
Variation info
Gene DLG4 ACADVL
CLNDBN Very long chain acyl-CoA dehydrogenase deficiency not specified
Reversed 0
HGVS NC_000017.10:g.7123838C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001698.3, RCV000020076.1, RCV000077913.5,



GET Evidence
ACADVL-P65L
aa_change Pro65Leu
aa_change_short P65L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0340212
summary