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rs80356796

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356796(C;G)
Make rs80356796(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68793336
GeneCPT1A
is asnp
is mentioned by
dbSNPrs80356796
ebirs80356796
HLIrs80356796
Exacrs80356796
Varsomers80356796
Maprs80356796
PheGenIrs80356796
hapmaprs80356796
1000 genomesrs80356796
hgdprs80356796
ensemblrs80356796
gopubmedrs80356796
geneviewrs80356796
scholarrs80356796
googlers80356796
pharmgkbrs80356796
gwascentralrs80356796
openSNPrs80356796
23andMers80356796
23andMe allrs80356796
SNP Nexus

SNPshotrs80356796
SNPdbers80356796
MSV3drs80356796
GWAS Ctlgrs80356796
Max Magnitude0
ClinVar
Risk rs80356796(G;G)
Alt rs80356796(G;G)
Reference rs80356796(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.68560804G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000055872.1,


[PMID 15110323] Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.