rs397515543

Orientation

minus

Stabilized

minus

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

Make rs397515543(C;T)

Make rs397515543(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68781784

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs397515543
dbSNP (classic)	rs397515543
ClinGen	rs397515543
ebi	rs397515543
HLI	rs397515543
Exac	rs397515543
Gnomad	rs397515543
Varsome	rs397515543
LitVar	rs397515543
Map	rs397515543
PheGenI	rs397515543
Biobank	rs397515543
1000 genomes	rs397515543
hgdp	rs397515543
ensembl	rs397515543
geneview	rs397515543
scholar	rs397515543
google	rs397515543
pharmgkb	rs397515543
gwascentral	rs397515543
openSNP	rs397515543
23andMe	rs397515543
SNPshot	rs397515543
SNPdbe	rs397515543
MSV3d	rs397515543
GWAS Ctlg	rs397515543

Max Magnitude

0

ClinVar
Risk	rs397515543(T;T)
Alt	rs397515543(T;T)
Reference	Rs397515543(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.68549252G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000055854.1,