rs186044004

Orientation

plus

Stabilized

plus

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

Make rs186044004(A;A)

Make rs186044004(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

53213264

Gene

CPT2

is a	snp
is	mentioned by
dbSNP	rs186044004
dbSNP (classic)	rs186044004
ClinGen	rs186044004
ebi	rs186044004
HLI	rs186044004
Exac	rs186044004
Gnomad	rs186044004
Varsome	rs186044004
LitVar	rs186044004
Map	rs186044004
PheGenI	rs186044004
Biobank	rs186044004
1000 genomes	rs186044004
hgdp	rs186044004
ensembl	rs186044004
geneview	rs186044004
scholar	rs186044004
google	rs186044004
pharmgkb	rs186044004
gwascentral	rs186044004
openSNP	rs186044004
23andMe	rs186044004
SNPshot	rs186044004
SNPdbe	rs186044004
MSV3d	rs186044004
GWAS Ctlg	rs186044004

Max Magnitude

0

ClinVar
Risk	rs186044004(A;A)
Alt	rs186044004(A;A)
Reference	Rs186044004(G;G)
Significance	Pathogenic
Disease	Carnitine palmitoyltransferase II deficiency
Variation	info
Gene	CPT2
CLNDBN	Carnitine palmitoyltransferase II deficiency
Reversed	0
HGVS	NC_000001.10:g.53678936G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000202475.1,