rs74315300

Orientation

plus

Stabilized

plus

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

Make rs74315300(A;G)

Make rs74315300(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

53210312

Gene

CPT2

is a	snp
is	mentioned by
dbSNP	rs74315300
dbSNP (classic)	rs74315300
ClinGen	rs74315300
ebi	rs74315300
HLI	rs74315300
Exac	rs74315300
Gnomad	rs74315300
Varsome	rs74315300
LitVar	rs74315300
Map	rs74315300
PheGenI	rs74315300
Biobank	rs74315300
1000 genomes	rs74315300
hgdp	rs74315300
ensembl	rs74315300
geneview	rs74315300
scholar	rs74315300
google	rs74315300
pharmgkb	rs74315300
gwascentral	rs74315300
openSNP	rs74315300
23andMe	rs74315300
SNPshot	rs74315300
SNPdbe	rs74315300
MSV3d	rs74315300
GWAS Ctlg	rs74315300

Max Magnitude

0

OMIM	600650
Desc
Variant	0016
Related	also

ClinVar
Risk	rs74315300(G;G)
Alt	rs74315300(G;G)
Reference	Rs74315300(A;A)
Significance	Pathogenic
Disease	Carnitine palmitoyltransferase II deficiency
Variation	info
Gene	CPT2
CLNDBN	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
Reversed	0
HGVS	NC_000001.10:g.53675984A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009529.3,