rs80356785

Orientation

minus

Stabilized

minus

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

Make rs80356785(A;A)

Make rs80356785(A;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68773268

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs80356785
dbSNP (classic)	rs80356785
ClinGen	rs80356785
ebi	rs80356785
HLI	rs80356785
Exac	rs80356785
Gnomad	rs80356785
Varsome	rs80356785
LitVar	rs80356785
Map	rs80356785
PheGenI	rs80356785
Biobank	rs80356785
1000 genomes	rs80356785
hgdp	rs80356785
ensembl	rs80356785
geneview	rs80356785
scholar	rs80356785
google	rs80356785
pharmgkb	rs80356785
gwascentral	rs80356785
openSNP	rs80356785
23andMe	rs80356785
SNPshot	rs80356785
SNPdbe	rs80356785
MSV3d	rs80356785
GWAS Ctlg	rs80356785

Max Magnitude

0

ClinVar
Risk	rs80356785(A;A) rs80356785(G;G)
Alt	rs80356785(A;A) rs80356785(G;G)
Reference	Rs80356785(C;C)
Significance	Pathogenic
Disease	Carnitine palmitoyltransferase I deficiency
Variation	info
Gene	CPT1A
CLNDBN	Carnitine palmitoyltransferase I deficiency
Reversed	1
HGVS	NC_000011.9:g.68540736G>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000055862.1,

[PMID 16146704] Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency.