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rs398123654

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123654(A;A)
Make rs398123654(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position68812496
GeneCPT1A
is asnp
is mentioned by
dbSNPrs398123654
ebirs398123654
HLIrs398123654
Exacrs398123654
Varsomers398123654
Maprs398123654
PheGenIrs398123654
hapmaprs398123654
1000 genomesrs398123654
hgdprs398123654
ensemblrs398123654
gopubmedrs398123654
geneviewrs398123654
scholarrs398123654
googlers398123654
pharmgkbrs398123654
gwascentralrs398123654
openSNPrs398123654
23andMers398123654
23andMe allrs398123654
SNP Nexus

SNPshotrs398123654
SNPdbers398123654
MSV3drs398123654
GWAS Ctlgrs398123654
Max Magnitude0
ClinVar
Risk rs398123654(A,T;A,T)
Alt rs398123654(A,T;A,T)
Reference rs398123654(C;C)
Significance Pathogenic
Disease not provided Carnitine palmitoyltransferase I deficiency
Variation info
Gene CPT1A
CLNDBN not provided Carnitine palmitoyltransferase I deficiency
Reversed 1
HGVS NC_000011.9:g.68579964G>T
CLNSRC ClinVar Emory University
CLNACC RCV000079912.3, RCV000177140.1,