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rs1057516586

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516586(C;T)
Make rs1057516586(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position68773294
GeneCPT1A
is asnp
is mentioned by
dbSNPrs1057516586
dbSNP (old)rs1057516586
ClinGenrs1057516586
ebirs1057516586
HLIrs1057516586
Exacrs1057516586
Gnomadrs1057516586
Varsomers1057516586
Maprs1057516586
PheGenIrs1057516586
Biobankrs1057516586
1000 genomesrs1057516586
hgdprs1057516586
ensemblrs1057516586
gopubmedrs1057516586
geneviewrs1057516586
scholarrs1057516586
googlers1057516586
pharmgkbrs1057516586
gwascentralrs1057516586
openSNPrs1057516586
23andMers1057516586
23andMe allrs1057516586
SNPshotrs1057516586
SNPdbers1057516586
MSV3drs1057516586
GWAS Ctlgrs1057516586
Max Magnitude0
ClinVar
Risk rs1057516586(T;T)
Alt rs1057516586(T;T)
Reference Rs1057516586(C;C)
Significance Probable-Pathogenic
Disease Carnitine palmitoyltransferase I deficiency
Variation info
Gene CPT1A
CLNDBN Carnitine palmitoyltransferase I deficiency
Reversed 1
HGVS NC_000011.9:g.68540762G>A
CLNSRC
CLNACC RCV000409010.1,