rs112498048

Orientation

plus

Stabilized

plus

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

Make rs112498048(C;T)

Make rs112498048(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

68793314

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs112498048
dbSNP (classic)	rs112498048
ClinGen	rs112498048
ebi	rs112498048
HLI	rs112498048
Exac	rs112498048
Gnomad	rs112498048
Varsome	rs112498048
LitVar	rs112498048
Map	rs112498048
PheGenI	rs112498048
Biobank	rs112498048
1000 genomes	rs112498048
hgdp	rs112498048
ensembl	rs112498048
geneview	rs112498048
scholar	rs112498048
google	rs112498048
pharmgkb	rs112498048
gwascentral	rs112498048
openSNP	rs112498048
23andMe	rs112498048
SNPshot	rs112498048
SNPdbe	rs112498048
MSV3d	rs112498048
GWAS Ctlg	rs112498048

Max Magnitude

0

ClinVar
Risk	rs112498048(T;T)
Alt	rs112498048(T;T)
Reference	Rs112498048(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.68560782C>T
CLNSRC
CLNACC	RCV000412145.1,