rs80356794

Orientation

minus

Stabilized

minus

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

Make rs80356794(A;A)

Make rs80356794(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68780673

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs80356794
dbSNP (classic)	rs80356794
ClinGen	rs80356794
ebi	rs80356794
HLI	rs80356794
Exac	rs80356794
Gnomad	rs80356794
Varsome	rs80356794
LitVar	rs80356794
Map	rs80356794
PheGenI	rs80356794
Biobank	rs80356794
1000 genomes	rs80356794
hgdp	rs80356794
ensembl	rs80356794
geneview	rs80356794
scholar	rs80356794
google	rs80356794
pharmgkb	rs80356794
gwascentral	rs80356794
openSNP	rs80356794
23andMe	rs80356794
SNPshot	rs80356794
SNPdbe	rs80356794
MSV3d	rs80356794
GWAS Ctlg	rs80356794

Max Magnitude

0

ClinVar
Risk	rs80356794(A;A)
Alt	rs80356794(A;A)
Reference	Rs80356794(G;G)
Significance	Pathogenic
Disease	Carnitine palmitoyltransferase I deficiency
Variation	info
Gene	CPT1A
CLNDBN	Carnitine palmitoyltransferase I deficiency
Reversed	1
HGVS	NC_000011.9:g.68548141C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000055856.1,