rs2286963
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs2286963(G;G) |
Make rs2286963(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 210195326 |
Gene | ACADL |
is a | snp |
is | mentioned by |
dbSNP | rs2286963 |
dbSNP (classic) | rs2286963 |
ClinGen | rs2286963 |
ebi | rs2286963 |
HLI | rs2286963 |
Exac | rs2286963 |
Gnomad | rs2286963 |
Varsome | rs2286963 |
LitVar | rs2286963 |
Map | rs2286963 |
PheGenI | rs2286963 |
Biobank | rs2286963 |
1000 genomes | rs2286963 |
hgdp | rs2286963 |
ensembl | rs2286963 |
geneview | rs2286963 |
scholar | rs2286963 |
rs2286963 | |
pharmgkb | rs2286963 |
gwascentral | rs2286963 |
openSNP | rs2286963 |
23andMe | rs2286963 |
SNPshot | rs2286963 |
SNPdbe | rs2286963 |
MSV3d | rs2286963 |
GWAS Ctlg | rs2286963 |
GMAF | 0.2287 |
Max Magnitude | 0 |
? | (G;G) (G;T) (T;T) | 28 |
---|---|---|
|
GWAS snp | |
---|---|
PMID | [PMID 20037589![]() |
Trait | Serum metabolites |
Title | A genome-wide perspective of genetic variation in human metabolism |
Risk Allele | T |
P-val | 3E-60 |
Odds Ratio | 13.80 [NR] % variance explained |
ClinVar | |
---|---|
Risk | rs2286963(G;G) |
Alt | rs2286963(G;G) |
Reference | Rs2286963(T;T) |
Significance | Non-pathogenic |
Disease | not provided Very long chain acyl-CoA dehydrogenase deficiency |
Variation | info |
Gene | ACADL |
CLNDBN | not provided Very long chain acyl-CoA dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000002.11:g.211060050T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000115027.2, RCV000328841.1, |
[PMID 21339799] Bioinformatics-driven identification and examination of candidate genes for non-alcoholic fatty liver disease.
[PMID 22738862] SNPs affecting serum metabolomic traits may regulate gene transcription and lipid accumulation in the liver
Categories:
- Is a snp
- In dbSNP
- SNPs on chromosome 2
- Has genotype
- Has population
- Uses omim
- On chip 23andMe v1
- On chip 23andMe v2
- On chip 23andMe v3
- On chip 23andMe v4
- On chip Affy GenomeWide 6
- On chip Ancestry v2
- On chip FTDNA2
- On chip FTDNA
- On chip HumanOmni1Quad
- On chip Illumina Human 1M
- On chip 23andMe v5
- On chip Ancestry v2c
- On chip Ancestry v2d