rs3764913
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs3764913(C;C) |
Make rs3764913(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 210210185 |
Gene | ACADL |
is a | snp |
is | mentioned by |
dbSNP | rs3764913 |
dbSNP (classic) | rs3764913 |
ClinGen | rs3764913 |
ebi | rs3764913 |
HLI | rs3764913 |
Exac | rs3764913 |
Gnomad | rs3764913 |
Varsome | rs3764913 |
LitVar | rs3764913 |
Map | rs3764913 |
PheGenI | rs3764913 |
Biobank | rs3764913 |
1000 genomes | rs3764913 |
hgdp | rs3764913 |
ensembl | rs3764913 |
geneview | rs3764913 |
scholar | rs3764913 |
rs3764913 | |
pharmgkb | rs3764913 |
gwascentral | rs3764913 |
openSNP | rs3764913 |
23andMe | rs3764913 |
SNPshot | rs3764913 |
SNPdbe | rs3764913 |
MSV3d | rs3764913 |
GWAS Ctlg | rs3764913 |
GMAF | 0.2305 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
GWAS snp | |
---|---|
PMID | [PMID 23281178] |
Trait | Metabolite levels |
Title | A genome-wide assessment of variability in human serum metabolism. |
Risk Allele | T |
P-val | 4E-29 |
Odds Ratio | NR NR |
ClinVar | |
---|---|
Risk | rs3764913(C;C) |
Alt | rs3764913(C;C) |
Reference | Rs3764913(T;T) |
Significance | Non-pathogenic |
Disease | Very long chain acyl-CoA dehydrogenase deficiency |
Variation | info |
Gene | ACADL |
CLNDBN | Very long chain acyl-CoA dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000002.11:g.211074909T>C |
CLNSRC | |
CLNACC | RCV000403038.1, |