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rs80356778

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80356778(A;G)
Make rs80356778(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68780737
GeneCPT1A
is asnp
is mentioned by
dbSNPrs80356778
ebirs80356778
HLIrs80356778
Exacrs80356778
Varsomers80356778
Maprs80356778
PheGenIrs80356778
hapmaprs80356778
1000 genomesrs80356778
hgdprs80356778
ensemblrs80356778
gopubmedrs80356778
geneviewrs80356778
scholarrs80356778
googlers80356778
pharmgkbrs80356778
gwascentralrs80356778
openSNPrs80356778
23andMers80356778
23andMe allrs80356778
SNP Nexus

SNPshotrs80356778
SNPdbers80356778
MSV3drs80356778
GWAS Ctlgrs80356778
Max Magnitude0
OMIM600528
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80356778(G;G)
Alt rs80356778(G;G)
Reference rs80356778(A;A)
Significance Pathogenic
Disease Carnitine palmitoyltransferase I deficiency
Variation info
Gene CPT1A
CLNDBN Carnitine palmitoyltransferase I deficiency
Reversed 1
HGVS NC_000011.9:g.68548205T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009628.2,


[PMID 9691089OA-icon.png] Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.