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rs80356785

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356785(A;A)
Make rs80356785(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position68773268
GeneCPT1A
is asnp
is mentioned by
dbSNPrs80356785
ebirs80356785
HLIrs80356785
Exacrs80356785
Varsomers80356785
Maprs80356785
PheGenIrs80356785
hapmaprs80356785
1000 genomesrs80356785
hgdprs80356785
ensemblrs80356785
gopubmedrs80356785
geneviewrs80356785
scholarrs80356785
googlers80356785
pharmgkbrs80356785
gwascentralrs80356785
openSNPrs80356785
23andMers80356785
23andMe allrs80356785
SNP Nexus

SNPshotrs80356785
SNPdbers80356785
MSV3drs80356785
GWAS Ctlgrs80356785
Max Magnitude0
ClinVar
Risk rs80356785(A,G;A,G)
Alt rs80356785(A,G;A,G)
Reference rs80356785(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.68540736G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000055862.1,


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