rs786204647

Orientation

plus

Stabilized

plus

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

Make rs786204647(-;-)

Make rs786204647(-;G)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

53196981

Gene

CPT2

is a	snp
is	mentioned by
dbSNP	rs786204647
dbSNP (classic)	rs786204647
ClinGen	rs786204647
ebi	rs786204647
HLI	rs786204647
Exac	rs786204647
Gnomad	rs786204647
Varsome	rs786204647
LitVar	rs786204647
Map	rs786204647
PheGenI	rs786204647
Biobank	rs786204647
1000 genomes	rs786204647
hgdp	rs786204647
ensembl	rs786204647
geneview	rs786204647
scholar	rs786204647
google	rs786204647
pharmgkb	rs786204647
gwascentral	rs786204647
openSNP	rs786204647
23andMe	rs786204647
SNPshot	rs786204647
SNPdbe	rs786204647
MSV3d	rs786204647
GWAS Ctlg	rs786204647

Max Magnitude

0

ClinVar
Risk	rs786204647(-;-)
Alt	rs786204647(-;-)
Reference	Rs786204647(G;G)
Significance	Probable-Pathogenic
Disease	Carnitine palmitoyltransferase II deficiency
Variation	info
Gene	CPT2
CLNDBN	Carnitine palmitoyltransferase II deficiency, infantile
Reversed	0
HGVS	NC_000001.10:g.53662653delG
CLNSRC
CLNACC	RCV000169434.1,