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rs1057517426

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGTT;AGTT) 0 common in clinvar
Make rs1057517426(-;-)
Make rs1057517426(-;GTTA)
Make rs1057517426(GTTA;GTTA)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position7222223
GeneACADVL
is asnp
is mentioned by
dbSNPrs1057517426
dbSNP (classic)rs1057517426
ClinGenrs1057517426
ebirs1057517426
HLIrs1057517426
Exacrs1057517426
Gnomadrs1057517426
Varsomers1057517426
LitVarrs1057517426
Maprs1057517426
PheGenIrs1057517426
Biobankrs1057517426
1000 genomesrs1057517426
hgdprs1057517426
ensemblrs1057517426
geneviewrs1057517426
scholarrs1057517426
googlers1057517426
pharmgkbrs1057517426
gwascentralrs1057517426
openSNPrs1057517426
23andMers1057517426
23andMe allrs1057517426
SNPshotrs1057517426
SNPdbers1057517426
MSV3drs1057517426
GWAS Ctlgrs1057517426
Max Magnitude0
ClinVar
Risk rs1057517426(-;-)
Alt rs1057517426(-;-)
Reference Rs1057517426(AGTT;AGTT)
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.7125542_7125545delGTTA
CLNSRC
CLNACC RCV000410749.1,