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rs1057516979

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs1057516979(-;-)
Make rs1057516979(-;AA)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position7220796
GeneACADVL, DLG4
is asnp
is mentioned by
dbSNPrs1057516979
dbSNP (old)rs1057516979
ClinGenrs1057516979
ebirs1057516979
HLIrs1057516979
Exacrs1057516979
Gnomadrs1057516979
Varsomers1057516979
LitVarrs1057516979
Maprs1057516979
PheGenIrs1057516979
Biobankrs1057516979
1000 genomesrs1057516979
hgdprs1057516979
ensemblrs1057516979
gopubmedrs1057516979
geneviewrs1057516979
scholarrs1057516979
googlers1057516979
pharmgkbrs1057516979
gwascentralrs1057516979
openSNPrs1057516979
23andMers1057516979
23andMe allrs1057516979
SNPshotrs1057516979
SNPdbers1057516979
MSV3drs1057516979
GWAS Ctlgrs1057516979
Max Magnitude0
ClinVar
Risk rs1057516979(-;-)
Alt rs1057516979(-;-)
Reference Rs1057516979(AA;AA)
Significance Probable-Pathogenic
Disease Very long chain acyl-CoA dehydrogenase deficiency
Variation info
Gene DLG4 ACADVL
CLNDBN Very long chain acyl-CoA dehydrogenase deficiency
Reversed 0
HGVS NC_000017.10:g.7124115_7124116delAA
CLNSRC
CLNACC RCV000410821.1,