rs753776604

Orientation

plus

Stabilized

plus

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

Make rs753776604(-;-)

Make rs753776604(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

68780712

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs753776604
dbSNP (classic)	rs753776604
ClinGen	rs753776604
ebi	rs753776604
HLI	rs753776604
Exac	rs753776604
Gnomad	rs753776604
Varsome	rs753776604
LitVar	rs753776604
Map	rs753776604
PheGenI	rs753776604
Biobank	rs753776604
1000 genomes	rs753776604
hgdp	rs753776604
ensembl	rs753776604
geneview	rs753776604
scholar	rs753776604
google	rs753776604
pharmgkb	rs753776604
gwascentral	rs753776604
openSNP	rs753776604
23andMe	rs753776604
SNPshot	rs753776604
SNPdbe	rs753776604
MSV3d	rs753776604
GWAS Ctlg	rs753776604

Max Magnitude

0

ClinVar
Risk	rs753776604(-;-)
Alt	rs753776604(-;-)
Reference	Rs753776604(G;G)
Significance	Probable-Pathogenic
Disease	Carnitine palmitoyltransferase I deficiency
Variation	info
Gene	CPT1A
CLNDBN	Carnitine palmitoyltransferase I deficiency
Reversed	0
HGVS	NC_000011.9:g.68548180delG
CLNSRC
CLNACC	RCV000410594.1,