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rs1057516817

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516817(C;C)
Make rs1057516817(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position7220199
GeneACADVL, DLG4
is asnp
is mentioned by
dbSNPrs1057516817
dbSNP (old)rs1057516817
ClinGenrs1057516817
ebirs1057516817
HLIrs1057516817
Exacrs1057516817
Gnomadrs1057516817
Varsomers1057516817
LitVarrs1057516817
Maprs1057516817
PheGenIrs1057516817
Biobankrs1057516817
1000 genomesrs1057516817
hgdprs1057516817
ensemblrs1057516817
gopubmedrs1057516817
geneviewrs1057516817
scholarrs1057516817
googlers1057516817
pharmgkbrs1057516817
gwascentralrs1057516817
openSNPrs1057516817
23andMers1057516817
23andMe allrs1057516817
SNPshotrs1057516817
SNPdbers1057516817
MSV3drs1057516817
GWAS Ctlgrs1057516817
Max Magnitude0
ClinVar
Risk rs1057516817(C;C)
Alt rs1057516817(C;C)
Reference Rs1057516817(T;T)
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.7123518T>C
CLNSRC
CLNACC RCV000410269.1,