rs886042250

Orientation

plus

Stabilized

plus

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

Chromosome

11

Position

68804006

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs886042250
dbSNP (classic)	rs886042250
ClinGen	rs886042250
ebi	rs886042250
HLI	rs886042250
Exac	rs886042250
Gnomad	rs886042250
Varsome	rs886042250
LitVar	rs886042250
Map	rs886042250
PheGenI	rs886042250
Biobank	rs886042250
1000 genomes	rs886042250
hgdp	rs886042250
ensembl	rs886042250
geneview	rs886042250
scholar	rs886042250
google	rs886042250
pharmgkb	rs886042250
gwascentral	rs886042250
openSNP	rs886042250
23andMe	rs886042250
SNPshot	rs886042250
SNPdbe	rs886042250
MSV3d	rs886042250
GWAS Ctlg	rs886042250

Max Magnitude

0

ClinVar
Risk	rs886042250(-;-)
Alt	rs886042250(-;-)
Reference	Rs886042250(CA;CA)
Significance	Pathogenic
Disease	Carnitine palmitoyltransferase I deficiency
Variation	info
Gene	CPT1A
CLNDBN	Carnitine palmitoyltransferase I deficiency
Reversed	0
HGVS	NC_000011.9:g.68571474_68571475delCA
CLNSRC
CLNACC	RCV000351021.1,