rs397515544

Orientation

minus

Stabilized

minus

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

Make rs397515544(A;A)

Make rs397515544(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68759648

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs397515544
dbSNP (classic)	rs397515544
ClinGen	rs397515544
ebi	rs397515544
HLI	rs397515544
Exac	rs397515544
Gnomad	rs397515544
Varsome	rs397515544
LitVar	rs397515544
Map	rs397515544
PheGenI	rs397515544
Biobank	rs397515544
1000 genomes	rs397515544
hgdp	rs397515544
ensembl	rs397515544
geneview	rs397515544
scholar	rs397515544
google	rs397515544
pharmgkb	rs397515544
gwascentral	rs397515544
openSNP	rs397515544
23andMe	rs397515544
SNPshot	rs397515544
SNPdbe	rs397515544
MSV3d	rs397515544
GWAS Ctlg	rs397515544

Max Magnitude

0

ClinVar
Risk	rs397515544(A;A)
Alt	rs397515544(A;A)
Reference	Rs397515544(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.68527116C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000055865.1,