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rs1057517280

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517280(A;T)
Make rs1057517280(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position7223966
GeneACADVL, MIR324
is asnp
is mentioned by
dbSNPrs1057517280
dbSNP (old)rs1057517280
ClinGenrs1057517280
ebirs1057517280
HLIrs1057517280
Exacrs1057517280
Gnomadrs1057517280
Varsomers1057517280
Maprs1057517280
PheGenIrs1057517280
Biobankrs1057517280
1000 genomesrs1057517280
hgdprs1057517280
ensemblrs1057517280
gopubmedrs1057517280
geneviewrs1057517280
scholarrs1057517280
googlers1057517280
pharmgkbrs1057517280
gwascentralrs1057517280
openSNPrs1057517280
23andMers1057517280
23andMe allrs1057517280
SNPshotrs1057517280
SNPdbers1057517280
MSV3drs1057517280
GWAS Ctlgrs1057517280
Max Magnitude0
ClinVar
Risk rs1057517280(T;T)
Alt rs1057517280(T;T)
Reference Rs1057517280(A;A)
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.7127285A>T
CLNSRC
CLNACC RCV000411741.1,