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rs1057516434

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516434(A;A)
Make rs1057516434(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position68812532
GeneCPT1A
is asnp
is mentioned by
dbSNPrs1057516434
dbSNP (classic)rs1057516434
ClinGenrs1057516434
ebirs1057516434
HLIrs1057516434
Exacrs1057516434
Gnomadrs1057516434
Varsomers1057516434
LitVarrs1057516434
Maprs1057516434
PheGenIrs1057516434
Biobankrs1057516434
1000 genomesrs1057516434
hgdprs1057516434
ensemblrs1057516434
geneviewrs1057516434
scholarrs1057516434
googlers1057516434
pharmgkbrs1057516434
gwascentralrs1057516434
openSNPrs1057516434
23andMers1057516434
23andMe allrs1057516434
SNPshotrs1057516434
SNPdbers1057516434
MSV3drs1057516434
GWAS Ctlgrs1057516434
Max Magnitude0
ClinVar
Risk rs1057516434(A;A)
Alt rs1057516434(A;A)
Reference Rs1057516434(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.68580000C>T
CLNSRC
CLNACC RCV000409874.1,