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rs1057516369

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs1057516369(-;-)
Make rs1057516369(-;TC)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position7221557
GeneACADVL, DLG4
is asnp
is mentioned by
dbSNPrs1057516369
dbSNP (old)rs1057516369
ClinGenrs1057516369
ebirs1057516369
HLIrs1057516369
Exacrs1057516369
Gnomadrs1057516369
Varsomers1057516369
Maprs1057516369
PheGenIrs1057516369
Biobankrs1057516369
1000 genomesrs1057516369
hgdprs1057516369
ensemblrs1057516369
gopubmedrs1057516369
geneviewrs1057516369
scholarrs1057516369
googlers1057516369
pharmgkbrs1057516369
gwascentralrs1057516369
openSNPrs1057516369
23andMers1057516369
23andMe allrs1057516369
SNPshotrs1057516369
SNPdbers1057516369
MSV3drs1057516369
GWAS Ctlgrs1057516369
Max Magnitude0
ClinVar
Risk rs1057516369(-;-)
Alt rs1057516369(-;-)
Reference Rs1057516369(TC;TC)
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.7124876_7124877delTC
CLNSRC
CLNACC RCV000412008.1,