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rs1057517046

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517046(A;A)
Make rs1057517046(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position68775433
GeneCPT1A
is asnp
is mentioned by
dbSNPrs1057517046
dbSNP (old)rs1057517046
ClinGenrs1057517046
ebirs1057517046
HLIrs1057517046
Exacrs1057517046
Gnomadrs1057517046
Varsomers1057517046
Maprs1057517046
PheGenIrs1057517046
Biobankrs1057517046
1000 genomesrs1057517046
hgdprs1057517046
ensemblrs1057517046
gopubmedrs1057517046
geneviewrs1057517046
scholarrs1057517046
googlers1057517046
pharmgkbrs1057517046
gwascentralrs1057517046
openSNPrs1057517046
23andMers1057517046
23andMe allrs1057517046
SNPshotrs1057517046
SNPdbers1057517046
MSV3drs1057517046
GWAS Ctlgrs1057517046
Max Magnitude0
ClinVar
Risk rs1057517046(A;A)
Alt rs1057517046(A;A)
Reference Rs1057517046(G;G)
Significance Probable-Pathogenic
Disease Carnitine palmitoyltransferase I deficiency
Variation info
Gene CPT1A
CLNDBN Carnitine palmitoyltransferase I deficiency
Reversed 1
HGVS NC_000011.9:g.68542901C>T
CLNSRC
CLNACC RCV000411059.1,