rs1057517409

Orientation

minus

Stabilized

minus

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

Make rs1057517409(C;C)

Make rs1057517409(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

68799217

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs1057517409
dbSNP (classic)	rs1057517409
ClinGen	rs1057517409
ebi	rs1057517409
HLI	rs1057517409
Exac	rs1057517409
Gnomad	rs1057517409
Varsome	rs1057517409
LitVar	rs1057517409
Map	rs1057517409
PheGenI	rs1057517409
Biobank	rs1057517409
1000 genomes	rs1057517409
hgdp	rs1057517409
ensembl	rs1057517409
geneview	rs1057517409
scholar	rs1057517409
google	rs1057517409
pharmgkb	rs1057517409
gwascentral	rs1057517409
openSNP	rs1057517409
23andMe	rs1057517409
SNPshot	rs1057517409
SNPdbe	rs1057517409
MSV3d	rs1057517409
GWAS Ctlg	rs1057517409

Max Magnitude

0

ClinVar
Risk	rs1057517409(C;C)
Alt	rs1057517409(C;C)
Reference	Rs1057517409(G;G)
Significance	Probable-Pathogenic
Disease	Carnitine palmitoyltransferase I deficiency
Variation	info
Gene	CPT1A
CLNDBN	Carnitine palmitoyltransferase I deficiency
Reversed	1
HGVS	NC_000011.9:g.68566685C>G
CLNSRC
CLNACC	RCV000409157.1,