rs121918528

Orientation

plus

Stabilized

plus

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

Make rs121918528(A;G)

Make rs121918528(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

53210033

Gene

CPT2

is a	snp
is	mentioned by
dbSNP	rs121918528
dbSNP (classic)	rs121918528
ClinGen	rs121918528
ebi	rs121918528
HLI	rs121918528
Exac	rs121918528
Gnomad	rs121918528
Varsome	rs121918528
LitVar	rs121918528
Map	rs121918528
PheGenI	rs121918528
Biobank	rs121918528
1000 genomes	rs121918528
hgdp	rs121918528
ensembl	rs121918528
geneview	rs121918528
scholar	rs121918528
google	rs121918528
pharmgkb	rs121918528
gwascentral	rs121918528
openSNP	rs121918528
23andMe	rs121918528
SNPshot	rs121918528
SNPdbe	rs121918528
MSV3d	rs121918528
GWAS Ctlg	rs121918528

Max Magnitude

0

OMIM	600650
Desc
Variant	0017
Related	also

ClinVar
Risk	rs121918528(G;G)
Alt	rs121918528(G;G)
Reference	Rs121918528(A;A)
Significance	Other
Disease	Carnitine palmitoyltransferase II deficiency 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 Carnitine palmitoyltransferase II deficiency, lethal neonatal Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
Reversed	0
HGVS	NC_000001.10:g.53675705A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009530.3, RCV000202546.1, RCV000408956.1, RCV000409888.1,