rs2229738

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs2229738(A;A)

Make rs2229738(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68794860

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs2229738
dbSNP (classic)	rs2229738
ClinGen	rs2229738
ebi	rs2229738
HLI	rs2229738
Exac	rs2229738
Gnomad	rs2229738
Varsome	rs2229738
LitVar	rs2229738
Map	rs2229738
PheGenI	rs2229738
Biobank	rs2229738
1000 genomes	rs2229738
hgdp	rs2229738
ensembl	rs2229738
geneview	rs2229738
scholar	rs2229738
google	rs2229738
pharmgkb	rs2229738
gwascentral	rs2229738
openSNP	rs2229738
23andMe	rs2229738
SNPshot	rs2229738
SNPdbe	rs2229738
MSV3d	rs2229738
GWAS Ctlg	rs2229738

Merged from

Rs17610395

GMAF

0.03627

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	rs2229738(A;A) rs2229738(C;C)
Alt	rs2229738(A;A) rs2229738(C;C)
Reference	Rs2229738(G;G)
Significance	Pathogenic
Disease	Carnitine palmitoyltransferase I deficiency not specified
Variation	info
Gene	CPT1A
CLNDBN	Carnitine palmitoyltransferase I deficiency not specified
Reversed	1
HGVS	NC_000011.9:g.68562328C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000055868.1, RCV000180224.3,

[PMID 11441142] Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.