rs767004984

Orientation

plus

Stabilized

plus

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

Make rs767004984(-;-)

Make rs767004984(-;CT)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

53213392

Gene

CPT2

is a	snp
is	mentioned by
dbSNP	rs767004984
dbSNP (classic)	rs767004984
ClinGen	rs767004984
ebi	rs767004984
HLI	rs767004984
Exac	rs767004984
Gnomad	rs767004984
Varsome	rs767004984
LitVar	rs767004984
Map	rs767004984
PheGenI	rs767004984
Biobank	rs767004984
1000 genomes	rs767004984
hgdp	rs767004984
ensembl	rs767004984
geneview	rs767004984
scholar	rs767004984
google	rs767004984
pharmgkb	rs767004984
gwascentral	rs767004984
openSNP	rs767004984
23andMe	rs767004984
SNPshot	rs767004984
SNPdbe	rs767004984
MSV3d	rs767004984
GWAS Ctlg	rs767004984

Max Magnitude

0

ClinVar
Risk	rs767004984(-;-)
Alt	rs767004984(-;-)
Reference	Rs767004984(CT;CT)
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.53679064_53679065delCT
CLNSRC
CLNACC	RCV000409282.1, RCV000410414.1, RCV000411459.1,