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rs1057517180

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517180(-;-)
Make rs1057517180(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position7222679
GeneACADVL
is asnp
is mentioned by
dbSNPrs1057517180
dbSNP (old)rs1057517180
ClinGenrs1057517180
ebirs1057517180
HLIrs1057517180
Exacrs1057517180
Gnomadrs1057517180
Varsomers1057517180
LitVarrs1057517180
Maprs1057517180
PheGenIrs1057517180
Biobankrs1057517180
1000 genomesrs1057517180
hgdprs1057517180
ensemblrs1057517180
gopubmedrs1057517180
geneviewrs1057517180
scholarrs1057517180
googlers1057517180
pharmgkbrs1057517180
gwascentralrs1057517180
openSNPrs1057517180
23andMers1057517180
23andMe allrs1057517180
SNPshotrs1057517180
SNPdbers1057517180
MSV3drs1057517180
GWAS Ctlgrs1057517180
Max Magnitude0
ClinVar
Risk rs1057517180(-;-)
Alt rs1057517180(-;-)
Reference Rs1057517180(G;G)
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.7125998delG
CLNSRC
CLNACC RCV000412387.1,