rs1057517517

Orientation

plus

Stabilized

plus

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

Make rs1057517517(A;A)

Make rs1057517517(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

53211288

Gene

CPT2

is a	snp
is	mentioned by
dbSNP	rs1057517517
dbSNP (classic)	rs1057517517
ClinGen	rs1057517517
ebi	rs1057517517
HLI	rs1057517517
Exac	rs1057517517
Gnomad	rs1057517517
Varsome	rs1057517517
LitVar	rs1057517517
Map	rs1057517517
PheGenI	rs1057517517
Biobank	rs1057517517
1000 genomes	rs1057517517
hgdp	rs1057517517
ensembl	rs1057517517
geneview	rs1057517517
scholar	rs1057517517
google	rs1057517517
pharmgkb	rs1057517517
gwascentral	rs1057517517
openSNP	rs1057517517
23andMe	rs1057517517
SNPshot	rs1057517517
SNPdbe	rs1057517517
MSV3d	rs1057517517
GWAS Ctlg	rs1057517517

Max Magnitude

0

ClinVar
Risk	rs1057517517(A;A)
Alt	rs1057517517(A;A)
Reference	Rs1057517517(C;C)
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, infantile Carnitine palmitoyltransferase II deficiency, lethal neonatal Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
Reversed	0
HGVS	NC_000001.10:g.53676960C>A
CLNSRC
CLNACC	RCV000409314.1, RCV000410441.1, RCV000411274.1,