rs74315299

Orientation

plus

Stabilized

plus

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

Make rs74315299(G;T)

Make rs74315299(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

53211034

Gene

CPT2

is a	snp
is	mentioned by
dbSNP	rs74315299
dbSNP (classic)	rs74315299
ClinGen	rs74315299
ebi	rs74315299
HLI	rs74315299
Exac	rs74315299
Gnomad	rs74315299
Varsome	rs74315299
LitVar	rs74315299
Map	rs74315299
PheGenI	rs74315299
Biobank	rs74315299
1000 genomes	rs74315299
hgdp	rs74315299
ensembl	rs74315299
geneview	rs74315299
scholar	rs74315299
google	rs74315299
pharmgkb	rs74315299
gwascentral	rs74315299
openSNP	rs74315299
23andMe	rs74315299
SNPshot	rs74315299
SNPdbe	rs74315299
MSV3d	rs74315299
GWAS Ctlg	rs74315299

Max Magnitude

0

OMIM	600650
Desc
Variant	0015
Related	also

ClinVar
Risk	rs74315299(T;T)
Alt	rs74315299(T;T)
Reference	Rs74315299(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.53676706G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009528.5,