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rs191107774

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs191107774(C;T)
Make rs191107774(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position68812436
GeneCPT1A
is asnp
is mentioned by
dbSNPrs191107774
dbSNP (classic)rs191107774
ClinGenrs191107774
ebirs191107774
HLIrs191107774
Exacrs191107774
Gnomadrs191107774
Varsomers191107774
LitVarrs191107774
Maprs191107774
PheGenIrs191107774
Biobankrs191107774
1000 genomesrs191107774
hgdprs191107774
ensemblrs191107774
geneviewrs191107774
scholarrs191107774
googlers191107774
pharmgkbrs191107774
gwascentralrs191107774
openSNPrs191107774
23andMers191107774
SNPshotrs191107774
SNPdbers191107774
MSV3drs191107774
GWAS Ctlgrs191107774
Max Magnitude0
ClinVar
Risk rs191107774(T;T)
Alt rs191107774(T;T)
Reference Rs191107774(C;C)
Significance Pathogenic
Disease not provided Carnitine palmitoyltransferase I deficiency
Variation info
Gene CPT1A
CLNDBN not provided Carnitine palmitoyltransferase I deficiency
Reversed 0
HGVS NC_000011.9:g.68579904C>T
CLNSRC ClinVar
CLNACC RCV000079913.3, RCV000177139.1,