rs80356795

Orientation

minus

Stabilized

minus

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

Make rs80356795(G;G)

Make rs80356795(G;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68775397

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs80356795
dbSNP (classic)	rs80356795
ClinGen	rs80356795
ebi	rs80356795
HLI	rs80356795
Exac	rs80356795
Gnomad	rs80356795
Varsome	rs80356795
LitVar	rs80356795
Map	rs80356795
PheGenI	rs80356795
Biobank	rs80356795
1000 genomes	rs80356795
hgdp	rs80356795
ensembl	rs80356795
geneview	rs80356795
scholar	rs80356795
google	rs80356795
pharmgkb	rs80356795
gwascentral	rs80356795
openSNP	rs80356795
23andMe	rs80356795
SNPshot	rs80356795
SNPdbe	rs80356795
MSV3d	rs80356795
GWAS Ctlg	rs80356795

Max Magnitude

0

ClinVar
Risk	rs80356795(A;A) rs80356795(G;G)
Alt	rs80356795(A;A) rs80356795(G;G)
Reference	Rs80356795(T;T)
Significance	Pathogenic
Disease	Carnitine palmitoyltransferase I deficiency
Variation	info
Gene	CPT1A
CLNDBN	Carnitine palmitoyltransferase I deficiency
Reversed	1
HGVS	NC_000011.9:g.68542865A>C; NC_000011.9:g.68542865A>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000055860.1, RCV000055859.1,

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