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rs397515544

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515544(A;A)
Make rs397515544(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68759648
GeneCPT1A
is asnp
is mentioned by
dbSNPrs397515544
ebirs397515544
HLIrs397515544
Exacrs397515544
Varsomers397515544
Maprs397515544
PheGenIrs397515544
hapmaprs397515544
1000 genomesrs397515544
hgdprs397515544
ensemblrs397515544
gopubmedrs397515544
geneviewrs397515544
scholarrs397515544
googlers397515544
pharmgkbrs397515544
gwascentralrs397515544
openSNPrs397515544
23andMers397515544
23andMe allrs397515544
SNP Nexus

SNPshotrs397515544
SNPdbers397515544
MSV3drs397515544
GWAS Ctlgrs397515544
Max Magnitude0
ClinVar
Risk rs397515544(A;A)
Alt rs397515544(A;A)
Reference rs397515544(G;G)
Significance Pathogenic
Disease Carnitine palmitoyltransferase I deficiency
Variation info
Gene CPT1A
CLNDBN Carnitine palmitoyltransferase I deficiency
Reversed 1
HGVS NC_000011.9:g.68527116C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000055865.1,