rs3916
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs3916(C;C) |
Make rs3916(C;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 120739469 |
Gene | ACADS |
is a | snp |
is | mentioned by |
dbSNP | rs3916 |
dbSNP (classic) | rs3916 |
ClinGen | rs3916 |
ebi | rs3916 |
HLI | rs3916 |
Exac | rs3916 |
Gnomad | rs3916 |
Varsome | rs3916 |
LitVar | rs3916 |
Map | rs3916 |
PheGenI | rs3916 |
Biobank | rs3916 |
1000 genomes | rs3916 |
hgdp | rs3916 |
ensembl | rs3916 |
geneview | rs3916 |
scholar | rs3916 |
rs3916 | |
pharmgkb | rs3916 |
gwascentral | rs3916 |
openSNP | rs3916 |
23andMe | rs3916 |
SNPshot | rs3916 |
SNPdbe | rs3916 |
MSV3d | rs3916 |
GWAS Ctlg | rs3916 |
Max Magnitude | 0 |
? | (C;C) (C;G) (G;G) | 28 |
---|---|---|
|
GWAS snp | |
---|---|
PMID | [PMID 24586186] |
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, |