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rs80356801

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356801(-;-)
Make rs80356801(-;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position68773405
GeneCPT1A
is asnp
is mentioned by
dbSNPrs80356801
ebirs80356801
HLIrs80356801
Exacrs80356801
Varsomers80356801
Maprs80356801
PheGenIrs80356801
hapmaprs80356801
1000 genomesrs80356801
hgdprs80356801
ensemblrs80356801
gopubmedrs80356801
geneviewrs80356801
scholarrs80356801
googlers80356801
pharmgkbrs80356801
gwascentralrs80356801
openSNPrs80356801
23andMers80356801
23andMe allrs80356801
SNP Nexus

SNPshotrs80356801
SNPdbers80356801
MSV3drs80356801
GWAS Ctlgrs80356801
Max Magnitude0
ClinVar
Risk rs80356801(;)
Alt rs80356801(;)
Reference rs80356801(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.68540873delG
CLNSRC ClinVar GeneReviews
CLNACC RCV000055861.1,


[PMID 16146704] Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency.