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

rs80356786

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356786(G;G)
Make rs80356786(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68815379
GeneCPT1A
is asnp
is mentioned by
dbSNPrs80356786
ebirs80356786
HLIrs80356786
Exacrs80356786
Varsomers80356786
Maprs80356786
PheGenIrs80356786
hapmaprs80356786
1000 genomesrs80356786
hgdprs80356786
ensemblrs80356786
gopubmedrs80356786
geneviewrs80356786
scholarrs80356786
googlers80356786
pharmgkbrs80356786
gwascentralrs80356786
openSNPrs80356786
23andMers80356786
23andMe allrs80356786
SNP Nexus

SNPshotrs80356786
SNPdbers80356786
MSV3drs80356786
GWAS Ctlgrs80356786
Max Magnitude0
ClinVar
Risk rs80356786(G;G)
Alt rs80356786(G;G)
Reference rs80356786(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.68582847A>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000055874.1,


[PMID 12111367] Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.