rs80356786

Orientation

minus

Stabilized

minus

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

Make rs80356786(G;G)

Make rs80356786(G;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68815379

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs80356786
dbSNP (classic)	rs80356786
ClinGen	rs80356786
ebi	rs80356786
HLI	rs80356786
Exac	rs80356786
Gnomad	rs80356786
Varsome	rs80356786
LitVar	rs80356786
Map	rs80356786
PheGenI	rs80356786
Biobank	rs80356786
1000 genomes	rs80356786
hgdp	rs80356786
ensembl	rs80356786
geneview	rs80356786
scholar	rs80356786
google	rs80356786
pharmgkb	rs80356786
gwascentral	rs80356786
openSNP	rs80356786
23andMe	rs80356786
SNPshot	rs80356786
SNPdbe	rs80356786
MSV3d	rs80356786
GWAS Ctlg	rs80356786

Max Magnitude

0

ClinVar
Risk	rs80356786(G;G)
Alt	rs80356786(G;G)
Reference	Rs80356786(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.68582847A>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000055874.1,

[PMID 12111367] Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.