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rs1057516304

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516304(-;-)
Make rs1057516304(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position68781825
GeneCPT1A
is asnp
is mentioned by
dbSNPrs1057516304
dbSNP (old)rs1057516304
ClinGenrs1057516304
ebirs1057516304
HLIrs1057516304
Exacrs1057516304
Gnomadrs1057516304
Varsomers1057516304
Maprs1057516304
PheGenIrs1057516304
Biobankrs1057516304
1000 genomesrs1057516304
hgdprs1057516304
ensemblrs1057516304
gopubmedrs1057516304
geneviewrs1057516304
scholarrs1057516304
googlers1057516304
pharmgkbrs1057516304
gwascentralrs1057516304
openSNPrs1057516304
23andMers1057516304
23andMe allrs1057516304
SNPshotrs1057516304
SNPdbers1057516304
MSV3drs1057516304
GWAS Ctlgrs1057516304
Max Magnitude0
ClinVar
Risk rs1057516304(-;-)
Alt rs1057516304(-;-)
Reference Rs1057516304(A;A)
Significance Probable-Pathogenic
Disease Carnitine palmitoyltransferase I deficiency
Variation info
Gene CPT1A
CLNDBN Carnitine palmitoyltransferase I deficiency
Reversed 1
HGVS NC_000011.9:g.68549293delT
CLNSRC
CLNACC RCV000410094.1,