rs148059333

Orientation

plus

Stabilized

plus

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

Make rs148059333(C;T)

Make rs148059333(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

68784814

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs148059333
dbSNP (classic)	rs148059333
ClinGen	rs148059333
ebi	rs148059333
HLI	rs148059333
Exac	rs148059333
Gnomad	rs148059333
Varsome	rs148059333
LitVar	rs148059333
Map	rs148059333
PheGenI	rs148059333
Biobank	rs148059333
1000 genomes	rs148059333
hgdp	rs148059333
ensembl	rs148059333
geneview	rs148059333
scholar	rs148059333
google	rs148059333
pharmgkb	rs148059333
gwascentral	rs148059333
openSNP	rs148059333
23andMe	rs148059333
SNPshot	rs148059333
SNPdbe	rs148059333
MSV3d	rs148059333
GWAS Ctlg	rs148059333

Max Magnitude

0

ClinVar
Risk	rs148059333(T;T)
Alt	rs148059333(T;T)
Reference	Rs148059333(C;C)
Significance	Probable-Pathogenic
Disease	Carnitine palmitoyltransferase I deficiency
Variation	info
Gene	CPT1A
CLNDBN	Carnitine palmitoyltransferase I deficiency
Reversed	0
HGVS	NC_000011.9:g.68552282C>T
CLNSRC
CLNACC	RCV000410681.1,