rs28936376

Orientation

plus

Stabilized

plus

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

Make rs28936376(A;A)

Make rs28936376(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

53213275

Gene

CPT2

is a	snp
is	mentioned by
dbSNP	rs28936376
dbSNP (classic)	rs28936376
ClinGen	rs28936376
ebi	rs28936376
HLI	rs28936376
Exac	rs28936376
Gnomad	rs28936376
Varsome	rs28936376
LitVar	rs28936376
Map	rs28936376
PheGenI	rs28936376
Biobank	rs28936376
1000 genomes	rs28936376
hgdp	rs28936376
ensembl	rs28936376
geneview	rs28936376
scholar	rs28936376
google	rs28936376
pharmgkb	rs28936376
gwascentral	rs28936376
openSNP	rs28936376
23andMe	rs28936376
SNPshot	rs28936376
SNPdbe	rs28936376
MSV3d	rs28936376
GWAS Ctlg	rs28936376

Max Magnitude

0

OMIM	600650
Desc	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
Variant	0004
Related	also

ClinVar
Risk	rs28936376(A;A)
Alt	rs28936376(A;A)
Reference	Rs28936376(G;G)
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.53678947G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009513.3,