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rs387906252

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAG;AAG) 0 common in clinvar
(AGA;AGA) 0 common in clinvar
(I;I) 0 common genotype
Make rs387906252(-;-)
Make rs387906252(-;AAG)
ReferenceGRCh38 38.1/141
Chromosome17
Position7222683
GeneACADVL
is asnp
is mentioned by
dbSNPrs387906252
dbSNP (classic)rs387906252
ClinGenrs387906252
ebirs387906252
HLIrs387906252
Exacrs387906252
Gnomadrs387906252
Varsomers387906252
LitVarrs387906252
Maprs387906252
PheGenIrs387906252
Biobankrs387906252
1000 genomesrs387906252
hgdprs387906252
ensemblrs387906252
geneviewrs387906252
scholarrs387906252
googlers387906252
pharmgkbrs387906252
gwascentralrs387906252
openSNPrs387906252
23andMers387906252
SNPshotrs387906252
SNPdbers387906252
MSV3drs387906252
GWAS Ctlgrs387906252
Merged fromRs398123094
Max Magnitude0
ClinVar
Risk rs387906252(-;-) Rs387906252(AGA;AGA)
Alt rs387906252(-;-) Rs387906252(AGA;AGA)
Reference Rs387906252(AAG;AAG)
Significance Other
Disease Very long chain acyl-CoA dehydrogenase deficiency not provided
Variation info
Gene ACADVL
CLNDBN Very long chain acyl-CoA dehydrogenase deficiency not provided
Reversed 0
HGVS NC_000017.10:g.7126003_7126005delAGA
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000001694.5, RCV000077926.4,