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rs1057517292

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517292(-;GGCC)
Make rs1057517292(GGCC;GGCC)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position7222672
GeneACADVL
is asnp
is mentioned by
dbSNPrs1057517292
dbSNP (old)rs1057517292
ClinGenrs1057517292
ebirs1057517292
HLIrs1057517292
Exacrs1057517292
Gnomadrs1057517292
Varsomers1057517292
Maprs1057517292
PheGenIrs1057517292
Biobankrs1057517292
1000 genomesrs1057517292
hgdprs1057517292
ensemblrs1057517292
gopubmedrs1057517292
geneviewrs1057517292
scholarrs1057517292
googlers1057517292
pharmgkbrs1057517292
gwascentralrs1057517292
openSNPrs1057517292
23andMers1057517292
23andMe allrs1057517292
SNPshotrs1057517292
SNPdbers1057517292
MSV3drs1057517292
GWAS Ctlgrs1057517292
Max Magnitude0
ClinVar
Risk rs1057517292(GGCC;GGCC)
Alt rs1057517292(GGCC;GGCC)
Reference Rs1057517292(-;-)
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.7125988_7125991dupGGCC
CLNSRC
CLNACC RCV000409715.1,