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rs1057516843

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516843(-;T)
Make rs1057516843(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position7222784
GeneACADVL
is asnp
is mentioned by
dbSNPrs1057516843
dbSNP (old)rs1057516843
ClinGenrs1057516843
ebirs1057516843
HLIrs1057516843
Exacrs1057516843
Gnomadrs1057516843
Varsomers1057516843
LitVarrs1057516843
Maprs1057516843
PheGenIrs1057516843
Biobankrs1057516843
1000 genomesrs1057516843
hgdprs1057516843
ensemblrs1057516843
gopubmedrs1057516843
geneviewrs1057516843
scholarrs1057516843
googlers1057516843
pharmgkbrs1057516843
gwascentralrs1057516843
openSNPrs1057516843
23andMers1057516843
23andMe allrs1057516843
SNPshotrs1057516843
SNPdbers1057516843
MSV3drs1057516843
GWAS Ctlgrs1057516843
Max Magnitude0
ClinVar
Risk rs1057516843(T;T)
Alt rs1057516843(T;T)
Reference Rs1057516843(-;-)
Significance Probable-Pathogenic
Disease Very long chain acyl-CoA dehydrogenase deficiency
Variation info
Gene ACADVL
CLNDBN Very long chain acyl-CoA dehydrogenase deficiency
Reversed 0
HGVS NC_000017.10:g.7126103dupT
CLNSRC
CLNACC RCV000409885.1,