rs80356800

Orientation

minus

Stabilized

minus

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

Make rs80356800(-;-)

Make rs80356800(-;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68793334

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs80356800
dbSNP (classic)	rs80356800
ClinGen	rs80356800
ebi	rs80356800
HLI	rs80356800
Exac	rs80356800
Gnomad	rs80356800
Varsome	rs80356800
LitVar	rs80356800
Map	rs80356800
PheGenI	rs80356800
Biobank	rs80356800
1000 genomes	rs80356800
hgdp	rs80356800
ensembl	rs80356800
geneview	rs80356800
scholar	rs80356800
google	rs80356800
pharmgkb	rs80356800
gwascentral	rs80356800
openSNP	rs80356800
23andMe	rs80356800
SNPshot	rs80356800
SNPdbe	rs80356800
MSV3d	rs80356800
GWAS Ctlg	rs80356800

Max Magnitude

0

ClinVar
Risk	rs80356800(-;-)
Alt	rs80356800(-;-)
Reference	Rs80356800(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.68560802delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009637.7,

[PMID 14517221] Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.