rs2286963

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
google	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

OMIM	609576
Desc
Variant	0001
Related	also

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