Have questions? Visit https://www.reddit.com/r/SNPedia

rs80356794

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356794(A;A)
Make rs80356794(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68780673
GeneCPT1A
is asnp
is mentioned by
dbSNPrs80356794
ebirs80356794
HLIrs80356794
Exacrs80356794
Varsomers80356794
Maprs80356794
PheGenIrs80356794
hapmaprs80356794
1000 genomesrs80356794
hgdprs80356794
ensemblrs80356794
gopubmedrs80356794
geneviewrs80356794
scholarrs80356794
googlers80356794
pharmgkbrs80356794
gwascentralrs80356794
openSNPrs80356794
23andMers80356794
23andMe allrs80356794
SNP Nexus

SNPshotrs80356794
SNPdbers80356794
MSV3drs80356794
GWAS Ctlgrs80356794
Max Magnitude0
ClinVar
Risk rs80356794(A;A)
Alt rs80356794(A;A)
Reference rs80356794(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.68548141C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000055856.1,