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rs80356800

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356800(-;-)
Make rs80356800(-;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68793334
GeneCPT1A
is asnp
is mentioned by
dbSNPrs80356800
ebirs80356800
HLIrs80356800
Exacrs80356800
Varsomers80356800
Maprs80356800
PheGenIrs80356800
hapmaprs80356800
1000 genomesrs80356800
hgdprs80356800
ensemblrs80356800
gopubmedrs80356800
geneviewrs80356800
scholarrs80356800
googlers80356800
pharmgkbrs80356800
gwascentralrs80356800
openSNPrs80356800
23andMers80356800
23andMe allrs80356800
SNP Nexus

SNPshotrs80356800
SNPdbers80356800
MSV3drs80356800
GWAS Ctlgrs80356800
Max Magnitude0
ClinVar
Risk rs80356800(;)
Alt rs80356800(;)
Reference rs80356800(G;G)
Significance Pathogenic
Disease Carnitine palmitoyltransferase I deficiency
Variation info
Gene CPT1A
CLNDBN Carnitine palmitoyltransferase I deficiency
Reversed 1
HGVS NC_000011.9:g.68560802delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000009637.7,


[PMID 14517221] Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.