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rs1057516370

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516370(C;C)
Make rs1057516370(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position7222867
GeneACADVL, MIR324
is asnp
is mentioned by
dbSNPrs1057516370
dbSNP (old)rs1057516370
ClinGenrs1057516370
ebirs1057516370
HLIrs1057516370
Exacrs1057516370
Gnomadrs1057516370
Varsomers1057516370
Maprs1057516370
PheGenIrs1057516370
Biobankrs1057516370
1000 genomesrs1057516370
hgdprs1057516370
ensemblrs1057516370
gopubmedrs1057516370
geneviewrs1057516370
scholarrs1057516370
googlers1057516370
pharmgkbrs1057516370
gwascentralrs1057516370
openSNPrs1057516370
23andMers1057516370
23andMe allrs1057516370
SNPshotrs1057516370
SNPdbers1057516370
MSV3drs1057516370
GWAS Ctlgrs1057516370
Max Magnitude0
ClinVar
Risk rs1057516370(C;C)
Alt rs1057516370(C;C)
Reference Rs1057516370(T;T)
Significance Probable-Pathogenic
Disease Very long chain acyl-CoA dehydrogenase deficiency
Variation info
Gene MIR324 ACADVL
CLNDBN Very long chain acyl-CoA dehydrogenase deficiency
Reversed 0
HGVS NC_000017.10:g.7126186T>C
CLNSRC
CLNACC RCV000411047.1,