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rs1057517231

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517231(-;-)
Make rs1057517231(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position7222784
GeneACADVL
is asnp
is mentioned by
dbSNPrs1057517231
dbSNP (old)rs1057517231
ClinGenrs1057517231
ebirs1057517231
HLIrs1057517231
Exacrs1057517231
Gnomadrs1057517231
Varsomers1057517231
Maprs1057517231
PheGenIrs1057517231
Biobankrs1057517231
1000 genomesrs1057517231
hgdprs1057517231
ensemblrs1057517231
gopubmedrs1057517231
geneviewrs1057517231
scholarrs1057517231
googlers1057517231
pharmgkbrs1057517231
gwascentralrs1057517231
openSNPrs1057517231
23andMers1057517231
23andMe allrs1057517231
SNPshotrs1057517231
SNPdbers1057517231
MSV3drs1057517231
GWAS Ctlgrs1057517231
Max Magnitude0
ClinVar
Risk rs1057517231(-;-)
Alt rs1057517231(-;-)
Reference Rs1057517231(T;T)
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.7126103delT
CLNSRC
CLNACC RCV000410931.1,