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rs1057517331

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517331(-;T)
Make rs1057517331(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position7223990
GeneACADVL, MIR324
is asnp
is mentioned by
dbSNPrs1057517331
dbSNP (classic)rs1057517331
ClinGenrs1057517331
ebirs1057517331
HLIrs1057517331
Exacrs1057517331
Gnomadrs1057517331
Varsomers1057517331
LitVarrs1057517331
Maprs1057517331
PheGenIrs1057517331
Biobankrs1057517331
1000 genomesrs1057517331
hgdprs1057517331
ensemblrs1057517331
geneviewrs1057517331
scholarrs1057517331
googlers1057517331
pharmgkbrs1057517331
gwascentralrs1057517331
openSNPrs1057517331
23andMers1057517331
23andMe allrs1057517331
SNPshotrs1057517331
SNPdbers1057517331
MSV3drs1057517331
GWAS Ctlgrs1057517331
Max Magnitude0
ClinVar
Risk rs1057517331(T;T)
Alt rs1057517331(T;T)
Reference Rs1057517331(-;-)
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.7127309dupT
CLNSRC
CLNACC RCV000409489.1,