rs1057517494

Orientation

plus

Stabilized

plus

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

Make rs1057517494(-;-)

Make rs1057517494(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

53197038

Gene

CPT2

is a	snp
is	mentioned by
dbSNP	rs1057517494
dbSNP (classic)	rs1057517494
ClinGen	rs1057517494
ebi	rs1057517494
HLI	rs1057517494
Exac	rs1057517494
Gnomad	rs1057517494
Varsome	rs1057517494
LitVar	rs1057517494
Map	rs1057517494
PheGenI	rs1057517494
Biobank	rs1057517494
1000 genomes	rs1057517494
hgdp	rs1057517494
ensembl	rs1057517494
geneview	rs1057517494
scholar	rs1057517494
google	rs1057517494
pharmgkb	rs1057517494
gwascentral	rs1057517494
openSNP	rs1057517494
23andMe	rs1057517494
SNPshot	rs1057517494
SNPdbe	rs1057517494
MSV3d	rs1057517494
GWAS Ctlg	rs1057517494

Max Magnitude

0

ClinVar
Risk	rs1057517494(-;-)
Alt	rs1057517494(-;-)
Reference	Rs1057517494(G;G)
Significance	Probable-Pathogenic
Disease	Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency
Variation	info
Gene	CPT2
CLNDBN	Carnitine palmitoyltransferase II deficiency, lethal neonatal Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced Carnitine palmitoyltransferase II deficiency, infantile
Reversed	0
HGVS	NC_000001.10:g.53662710delG
CLNSRC
CLNACC	RCV000409193.1, RCV000410121.1, RCV000411223.1,