rs189174414

Orientation

plus

Stabilized

plus

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

Make rs189174414(G;G)

Make rs189174414(G;T)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

68780734

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs189174414
dbSNP (classic)	rs189174414
ClinGen	rs189174414
ebi	rs189174414
HLI	rs189174414
Exac	rs189174414
Gnomad	rs189174414
Varsome	rs189174414
LitVar	rs189174414
Map	rs189174414
PheGenI	rs189174414
Biobank	rs189174414
1000 genomes	rs189174414
hgdp	rs189174414
ensembl	rs189174414
geneview	rs189174414
scholar	rs189174414
google	rs189174414
pharmgkb	rs189174414
gwascentral	rs189174414
openSNP	rs189174414
23andMe	rs189174414
SNPshot	rs189174414
SNPdbe	rs189174414
MSV3d	rs189174414
GWAS Ctlg	rs189174414

Max Magnitude

0

ClinVar
Risk	rs189174414(G;G)
Alt	rs189174414(G;G)
Reference	Rs189174414(T;T)
Significance	Probable-Pathogenic
Disease	Carnitine palmitoyltransferase I deficiency
Variation	info
Gene	CPT1A
CLNDBN	Carnitine palmitoyltransferase I deficiency
Reversed	0
HGVS	NC_000011.9:g.68548202T>G
CLNSRC
CLNACC	RCV000169575.1,