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rs886042250

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Chromosome11
Position68804006
GeneCPT1A
is asnp
is mentioned by
dbSNPrs886042250
dbSNP (old)rs886042250
ClinGenrs886042250
ebirs886042250
HLIrs886042250
Exacrs886042250
Gnomadrs886042250
Varsomers886042250
Maprs886042250
PheGenIrs886042250
Biobankrs886042250
1000 genomesrs886042250
hgdprs886042250
ensemblrs886042250
gopubmedrs886042250
geneviewrs886042250
scholarrs886042250
googlers886042250
pharmgkbrs886042250
gwascentralrs886042250
openSNPrs886042250
23andMers886042250
23andMe allrs886042250
SNPshotrs886042250
SNPdbers886042250
MSV3drs886042250
GWAS Ctlgrs886042250
Max Magnitude0
ClinVar
Risk rs886042250(-;-)
Alt rs886042250(-;-)
Reference Rs886042250(CA;CA)
Significance Pathogenic
Disease Carnitine palmitoyltransferase I deficiency
Variation info
Gene CPT1A
CLNDBN Carnitine palmitoyltransferase I deficiency
Reversed 0
HGVS NC_000011.9:g.68571474_68571475delCA
CLNSRC
CLNACC RCV000351021.1,