rs1057516396

Orientation

minus

Stabilized

minus

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

Make rs1057516396(C;T)

Make rs1057516396(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

68793363

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs1057516396
dbSNP (classic)	rs1057516396
ClinGen	rs1057516396
ebi	rs1057516396
HLI	rs1057516396
Exac	rs1057516396
Gnomad	rs1057516396
Varsome	rs1057516396
LitVar	rs1057516396
Map	rs1057516396
PheGenI	rs1057516396
Biobank	rs1057516396
1000 genomes	rs1057516396
hgdp	rs1057516396
ensembl	rs1057516396
geneview	rs1057516396
scholar	rs1057516396
google	rs1057516396
pharmgkb	rs1057516396
gwascentral	rs1057516396
openSNP	rs1057516396
23andMe	rs1057516396
SNPshot	rs1057516396
SNPdbe	rs1057516396
MSV3d	rs1057516396
GWAS Ctlg	rs1057516396

Max Magnitude

0

ClinVar
Risk	rs1057516396(T;T)
Alt	rs1057516396(T;T)
Reference	Rs1057516396(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.68560831G>A
CLNSRC
CLNACC	RCV000411254.1,