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rs2286963

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs2286963(G;G)
Make rs2286963(G;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position210195326
GeneACADL
is asnp
is mentioned by
dbSNPrs2286963
ebirs2286963
HLIrs2286963
Exacrs2286963
Varsomers2286963
Maprs2286963
PheGenIrs2286963
hapmaprs2286963
1000 genomesrs2286963
hgdprs2286963
ensemblrs2286963
gopubmedrs2286963
geneviewrs2286963
scholarrs2286963
googlers2286963
pharmgkbrs2286963
gwascentralrs2286963
openSNPrs2286963
23andMers2286963
23andMe allrs2286963
SNP Nexus

SNPshotrs2286963
SNPdbers2286963
MSV3drs2286963
GWAS Ctlgrs2286963
GMAF0.2287
Max Magnitude0
? (G;G) (G;T) (T;T) 28
GWAS snp
PMID [PMID 20037589OA-icon.png]
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
OMIM609576
Desc
Variant0001
Relatedalso


ClinVar
Risk rs2286963(G;G)
Alt rs2286963(G;G)
Reference rs2286963(T;T)
Significance Untested
Disease not provided
Variation info
Gene ACADL
CLNDBN not provided
Reversed 0
HGVS NC_000002.11:g.211060050T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000115027.2,



[PMID 21339799OA-icon.png] Bioinformatics-driven identification and examination of candidate genes for non-alcoholic fatty liver disease.


GET Evidence
ACADL-K333Q
aa_change Lys333Gln
aa_change_short K333Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.273894
summary



[PMID 22738862OA-icon.png] SNPs affecting serum metabolomic traits may regulate gene transcription and lipid accumulation in the liver