rs1057517046

Orientation

minus

Stabilized

minus

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

Make rs1057517046(A;A)

Make rs1057517046(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

68775433

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs1057517046
dbSNP (classic)	rs1057517046
ClinGen	rs1057517046
ebi	rs1057517046
HLI	rs1057517046
Exac	rs1057517046
Gnomad	rs1057517046
Varsome	rs1057517046
LitVar	rs1057517046
Map	rs1057517046
PheGenI	rs1057517046
Biobank	rs1057517046
1000 genomes	rs1057517046
hgdp	rs1057517046
ensembl	rs1057517046
geneview	rs1057517046
scholar	rs1057517046
google	rs1057517046
pharmgkb	rs1057517046
gwascentral	rs1057517046
openSNP	rs1057517046
23andMe	rs1057517046
SNPshot	rs1057517046
SNPdbe	rs1057517046
MSV3d	rs1057517046
GWAS Ctlg	rs1057517046

Max Magnitude

0

ClinVar
Risk	rs1057517046(A;A)
Alt	rs1057517046(A;A)
Reference	Rs1057517046(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.68542901C>T
CLNSRC
CLNACC	RCV000411059.1,