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rs397515543

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515543(C;T)
Make rs397515543(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68781784
GeneCPT1A
is asnp
is mentioned by
dbSNPrs397515543
ebirs397515543
HLIrs397515543
Exacrs397515543
Varsomers397515543
Maprs397515543
PheGenIrs397515543
hapmaprs397515543
1000 genomesrs397515543
hgdprs397515543
ensemblrs397515543
gopubmedrs397515543
geneviewrs397515543
scholarrs397515543
googlers397515543
pharmgkbrs397515543
gwascentralrs397515543
openSNPrs397515543
23andMers397515543
23andMe allrs397515543
SNP Nexus

SNPshotrs397515543
SNPdbers397515543
MSV3drs397515543
GWAS Ctlgrs397515543
Max Magnitude0
ClinVar
Risk rs397515543(T;T)
Alt rs397515543(T;T)
Reference rs397515543(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.68549252G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000055854.1,