rs1057517466

Orientation

plus

Stabilized

plus

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

Make rs1057517466(-;GC)

Make rs1057517466(GC;GC)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

53197054

Gene

CPT2

is a	snp
is	mentioned by
dbSNP	rs1057517466
dbSNP (classic)	rs1057517466
ClinGen	rs1057517466
ebi	rs1057517466
HLI	rs1057517466
Exac	rs1057517466
Gnomad	rs1057517466
Varsome	rs1057517466
LitVar	rs1057517466
Map	rs1057517466
PheGenI	rs1057517466
Biobank	rs1057517466
1000 genomes	rs1057517466
hgdp	rs1057517466
ensembl	rs1057517466
geneview	rs1057517466
scholar	rs1057517466
google	rs1057517466
pharmgkb	rs1057517466
gwascentral	rs1057517466
openSNP	rs1057517466
23andMe	rs1057517466
SNPshot	rs1057517466
SNPdbe	rs1057517466
MSV3d	rs1057517466
GWAS Ctlg	rs1057517466

Max Magnitude

0

ClinVar
Risk	rs1057517466(GC;GC)
Alt	rs1057517466(GC;GC)
Reference	Rs1057517466(-;-)
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, myopathic, stress-induced Carnitine palmitoyltransferase II deficiency, infantile Carnitine palmitoyltransferase II deficiency, lethal neonatal
Reversed	0
HGVS	NC_000001.10:g.53662725_53662726dupGC
CLNSRC
CLNACC	RCV000409793.1, RCV000410888.1, RCV000411956.1,