rs1057516304

Orientation

minus

Stabilized

minus

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

Make rs1057516304(-;-)

Make rs1057516304(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

68781825

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs1057516304
dbSNP (classic)	rs1057516304
ClinGen	rs1057516304
ebi	rs1057516304
HLI	rs1057516304
Exac	rs1057516304
Gnomad	rs1057516304
Varsome	rs1057516304
LitVar	rs1057516304
Map	rs1057516304
PheGenI	rs1057516304
Biobank	rs1057516304
1000 genomes	rs1057516304
hgdp	rs1057516304
ensembl	rs1057516304
geneview	rs1057516304
scholar	rs1057516304
google	rs1057516304
pharmgkb	rs1057516304
gwascentral	rs1057516304
openSNP	rs1057516304
23andMe	rs1057516304
SNPshot	rs1057516304
SNPdbe	rs1057516304
MSV3d	rs1057516304
GWAS Ctlg	rs1057516304

Max Magnitude

0

ClinVar
Risk	rs1057516304(-;-)
Alt	rs1057516304(-;-)
Reference	Rs1057516304(A;A)
Significance	Probable-Pathogenic
Disease	Carnitine palmitoyltransferase I deficiency
Variation	info
Gene	CPT1A
CLNDBN	Carnitine palmitoyltransferase I deficiency
Reversed	1
HGVS	NC_000011.9:g.68549293delT
CLNSRC
CLNACC	RCV000410094.1,