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rs3916

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs3916(C;C)
Make rs3916(C;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position120739469
GeneACADS
is asnp
is mentioned by
dbSNPrs3916
dbSNP (classic)rs3916
ClinGenrs3916
ebirs3916
HLIrs3916
Exacrs3916
Gnomadrs3916
Varsomers3916
LitVarrs3916
Maprs3916
PheGenIrs3916
Biobankrs3916
1000 genomesrs3916
hgdprs3916
ensemblrs3916
geneviewrs3916
scholarrs3916
googlers3916
pharmgkbrs3916
gwascentralrs3916
openSNPrs3916
23andMers3916
SNPshotrs3916
SNPdbers3916
MSV3drs3916
GWAS Ctlgrs3916
Max Magnitude0
? (C;C) (C;G) (G;G) 28


GWAS snp
PMID [PMID 24586186OA-icon.png]
Trait Urinary metabolites (H-NMR features)
Title Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
Risk Allele G
P-val 2E-22
Odds Ratio .40 [NR] unit increase


ClinVar
Risk rs3916(C;C) rs3916(T;T)
Alt rs3916(C;C) rs3916(T;T)
Reference Rs3916(G;G)
Significance Non-pathogenic
Disease not specified Deficiency of butyryl-CoA dehydrogenase
Variation info
Gene ACADS
CLNDBN not specified Deficiency of butyryl-CoA dehydrogenase
Reversed 0
HGVS NC_000012.11:g.121177272G>C
CLNSRC
CLNACC RCV000243252.1, RCV000304984.1,