rs1057517245

Orientation

minus

Stabilized

minus

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

Make rs1057517245(A;G)

Make rs1057517245(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

68794913

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs1057517245
dbSNP (classic)	rs1057517245
ClinGen	rs1057517245
ebi	rs1057517245
HLI	rs1057517245
Exac	rs1057517245
Gnomad	rs1057517245
Varsome	rs1057517245
LitVar	rs1057517245
Map	rs1057517245
PheGenI	rs1057517245
Biobank	rs1057517245
1000 genomes	rs1057517245
hgdp	rs1057517245
ensembl	rs1057517245
geneview	rs1057517245
scholar	rs1057517245
google	rs1057517245
pharmgkb	rs1057517245
gwascentral	rs1057517245
openSNP	rs1057517245
23andMe	rs1057517245
SNPshot	rs1057517245
SNPdbe	rs1057517245
MSV3d	rs1057517245
GWAS Ctlg	rs1057517245

Max Magnitude

0

ClinVar
Risk	rs1057517245(G;G)
Alt	rs1057517245(G;G)
Reference	Rs1057517245(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.68562381T>C
CLNSRC
CLNACC	RCV000409488.1,