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rs80356782

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356782(C;T)
Make rs80356782(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68804077
GeneCPT1A
is asnp
is mentioned by
dbSNPrs80356782
ebirs80356782
HLIrs80356782
Exacrs80356782
Varsomers80356782
Maprs80356782
PheGenIrs80356782
hapmaprs80356782
1000 genomesrs80356782
hgdprs80356782
ensemblrs80356782
gopubmedrs80356782
geneviewrs80356782
scholarrs80356782
googlers80356782
pharmgkbrs80356782
gwascentralrs80356782
openSNPrs80356782
23andMers80356782
23andMe allrs80356782
SNP Nexus

SNPshotrs80356782
SNPdbers80356782
MSV3drs80356782
GWAS Ctlgrs80356782
Max Magnitude0
ClinVar
Risk rs80356782(T;T)
Alt rs80356782(T;T)
Reference rs80356782(C;C)
Significance Pathogenic
Disease Carnitine palmitoyltransferase I deficiency
Variation info
Gene CPT1A
CLNDBN Carnitine palmitoyltransferase I deficiency
Reversed 1
HGVS NC_000011.9:g.68571545G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000055867.1,


[PMID 15110323] Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.