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rs80356783

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356783(G;G)
Make rs80356783(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68784951
GeneCPT1A
is asnp
is mentioned by
dbSNPrs80356783
ebirs80356783
HLIrs80356783
Exacrs80356783
Varsomers80356783
Maprs80356783
PheGenIrs80356783
hapmaprs80356783
1000 genomesrs80356783
hgdprs80356783
ensemblrs80356783
gopubmedrs80356783
geneviewrs80356783
scholarrs80356783
googlers80356783
pharmgkbrs80356783
gwascentralrs80356783
openSNPrs80356783
23andMers80356783
23andMe allrs80356783
SNP Nexus

SNPshotrs80356783
SNPdbers80356783
MSV3drs80356783
GWAS Ctlgrs80356783
Max Magnitude0
ClinVar
Risk rs80356783(G;G)
Alt rs80356783(G;G)
Reference rs80356783(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.68552419A>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000055852.1,


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