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rs113994167

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs113994167(C;C)
Make rs113994167(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position7222272
GeneACADVL
is asnp
is mentioned by
dbSNPrs113994167
ebirs113994167
HLIrs113994167
Exacrs113994167
Varsomers113994167
Maprs113994167
PheGenIrs113994167
hapmaprs113994167
1000 genomesrs113994167
hgdprs113994167
ensemblrs113994167
gopubmedrs113994167
geneviewrs113994167
scholarrs113994167
googlers113994167
pharmgkbrs113994167
gwascentralrs113994167
openSNPrs113994167
23andMers113994167
23andMe allrs113994167
SNP Nexus

SNPshotrs113994167
SNPdbers113994167
MSV3drs113994167
GWAS Ctlgrs113994167
Max Magnitude0
ClinVar
Risk rs113994167(C;C)
Alt rs113994167(C;C)
Reference rs113994167(T;T)
Significance Pathogenic
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.7125591T>C
CLNSRC HGMD
CLNACC RCV000020081.2, RCV000077925.6,


OMIM201475
Desc
Variant
Relatedalso