rs1057516586

Orientation

minus

Stabilized

minus

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

Make rs1057516586(C;T)

Make rs1057516586(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

68773294

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs1057516586
dbSNP (classic)	rs1057516586
ClinGen	rs1057516586
ebi	rs1057516586
HLI	rs1057516586
Exac	rs1057516586
Gnomad	rs1057516586
Varsome	rs1057516586
LitVar	rs1057516586
Map	rs1057516586
PheGenI	rs1057516586
Biobank	rs1057516586
1000 genomes	rs1057516586
hgdp	rs1057516586
ensembl	rs1057516586
geneview	rs1057516586
scholar	rs1057516586
google	rs1057516586
pharmgkb	rs1057516586
gwascentral	rs1057516586
openSNP	rs1057516586
23andMe	rs1057516586
SNPshot	rs1057516586
SNPdbe	rs1057516586
MSV3d	rs1057516586
GWAS Ctlg	rs1057516586

Max Magnitude

0

ClinVar
Risk	rs1057516586(T;T)
Alt	rs1057516586(T;T)
Reference	Rs1057516586(C;C)
Significance	Probable-Pathogenic
Disease	Carnitine palmitoyltransferase I deficiency
Variation	info
Gene	CPT1A
CLNDBN	Carnitine palmitoyltransferase I deficiency
Reversed	1
HGVS	NC_000011.9:g.68540762G>A
CLNSRC
CLNACC	RCV000409010.1,