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rs779893091

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs779893091(A;A)
Make rs779893091(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position68796900
GeneCPT1A
is asnp
is mentioned by
dbSNPrs779893091
dbSNP (classic)rs779893091
ClinGenrs779893091
ebirs779893091
HLIrs779893091
Exacrs779893091
Gnomadrs779893091
Varsomers779893091
LitVarrs779893091
Maprs779893091
PheGenIrs779893091
Biobankrs779893091
1000 genomesrs779893091
hgdprs779893091
ensemblrs779893091
geneviewrs779893091
scholarrs779893091
googlers779893091
pharmgkbrs779893091
gwascentralrs779893091
openSNPrs779893091
23andMers779893091
SNPshotrs779893091
SNPdbers779893091
MSV3drs779893091
GWAS Ctlgrs779893091
Max Magnitude0
ClinVar
Risk rs779893091(A;A) rs779893091(T;T)
Alt rs779893091(A;A) rs779893091(T;T)
Reference Rs779893091(G;G)
Significance Probable-Pathogenic
Disease Carnitine palmitoyltransferase I deficiency
Variation info
Gene CPT1A
CLNDBN Carnitine palmitoyltransferase I deficiency
Reversed 0
HGVS NC_000011.9:g.68564368G>A
CLNSRC
CLNACC RCV000410747.1,