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rs80356787

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80356787(A;G)
Make rs80356787(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68784899
GeneCPT1A
is asnp
is mentioned by
dbSNPrs80356787
ebirs80356787
HLIrs80356787
Exacrs80356787
Varsomers80356787
Maprs80356787
PheGenIrs80356787
hapmaprs80356787
1000 genomesrs80356787
hgdprs80356787
ensemblrs80356787
gopubmedrs80356787
geneviewrs80356787
scholarrs80356787
googlers80356787
pharmgkbrs80356787
gwascentralrs80356787
openSNPrs80356787
23andMers80356787
23andMe allrs80356787
SNP Nexus

SNPshotrs80356787
SNPdbers80356787
MSV3drs80356787
GWAS Ctlgrs80356787
Merged fromRs28936372
Max Magnitude0
OMIM600528
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80356787(G;G)
Alt rs80356787(G;G)
Reference rs80356787(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.68552367T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009629.6,


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