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rs80356795

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356795(G;G)
Make rs80356795(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68775397
GeneCPT1A
is asnp
is mentioned by
dbSNPrs80356795
ebirs80356795
HLIrs80356795
Exacrs80356795
Varsomers80356795
Maprs80356795
PheGenIrs80356795
hapmaprs80356795
1000 genomesrs80356795
hgdprs80356795
ensemblrs80356795
gopubmedrs80356795
geneviewrs80356795
scholarrs80356795
googlers80356795
pharmgkbrs80356795
gwascentralrs80356795
openSNPrs80356795
23andMers80356795
23andMe allrs80356795
SNP Nexus

SNPshotrs80356795
SNPdbers80356795
MSV3drs80356795
GWAS Ctlgrs80356795
Max Magnitude0
ClinVar
Risk rs80356795(A,G;A,G)
Alt rs80356795(A,G;A,G)
Reference rs80356795(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.68542865A>C; NC_000011.9:g.68542865A>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000055860.1, RCV000055859.1,


[PMID 14517221] Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.