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rs80356798

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356798(A;A)
Make rs80356798(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68761688
GeneCPT1A
is asnp
is mentioned by
dbSNPrs80356798
ebirs80356798
HLIrs80356798
Exacrs80356798
Varsomers80356798
Maprs80356798
PheGenIrs80356798
hapmaprs80356798
1000 genomesrs80356798
hgdprs80356798
ensemblrs80356798
gopubmedrs80356798
geneviewrs80356798
scholarrs80356798
googlers80356798
pharmgkbrs80356798
gwascentralrs80356798
openSNPrs80356798
23andMers80356798
23andMe allrs80356798
SNP Nexus

SNPshotrs80356798
SNPdbers80356798
MSV3drs80356798
GWAS Ctlgrs80356798
Max Magnitude0
ClinVar
Risk rs80356798(A;A)
Alt rs80356798(A;A)
Reference rs80356798(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.68529156C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009634.3,


[PMID 12189492] Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.