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rs80356793

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356793(C;C)
Make rs80356793(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68780647
GeneCPT1A
is asnp
is mentioned by
dbSNPrs80356793
ebirs80356793
HLIrs80356793
Exacrs80356793
Varsomers80356793
Maprs80356793
PheGenIrs80356793
hapmaprs80356793
1000 genomesrs80356793
hgdprs80356793
ensemblrs80356793
gopubmedrs80356793
geneviewrs80356793
scholarrs80356793
googlers80356793
pharmgkbrs80356793
gwascentralrs80356793
openSNPrs80356793
23andMers80356793
23andMe allrs80356793
SNP Nexus

SNPshotrs80356793
SNPdbers80356793
MSV3drs80356793
GWAS Ctlgrs80356793
Max Magnitude0
ClinVar
Risk rs80356793(C;C)
Alt rs80356793(C;C)
Reference rs80356793(T;T)
Significance Pathogenic
Disease Carnitine palmitoyltransferase I deficiency
Variation info
Gene CPT1A
CLNDBN Carnitine palmitoyltransferase I deficiency
Reversed 1
HGVS NC_000011.9:g.68548115A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000055858.1,


[PMID 11441142] Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.