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rs1057516800

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516800(-;AAAA)
Make rs1057516800(AAAA;AAAA)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position68761565
GeneCPT1A
is asnp
is mentioned by
dbSNPrs1057516800
dbSNP (old)rs1057516800
ClinGenrs1057516800
ebirs1057516800
HLIrs1057516800
Exacrs1057516800
Gnomadrs1057516800
Varsomers1057516800
Maprs1057516800
PheGenIrs1057516800
Biobankrs1057516800
1000 genomesrs1057516800
hgdprs1057516800
ensemblrs1057516800
gopubmedrs1057516800
geneviewrs1057516800
scholarrs1057516800
googlers1057516800
pharmgkbrs1057516800
gwascentralrs1057516800
openSNPrs1057516800
23andMers1057516800
23andMe allrs1057516800
SNPshotrs1057516800
SNPdbers1057516800
MSV3drs1057516800
GWAS Ctlgrs1057516800
Max Magnitude0
ClinVar
Risk rs1057516800(AAAA;AAAA)
Alt rs1057516800(AAAA;AAAA)
Reference Rs1057516800(-;-)
Significance Probable-Pathogenic
Disease Carnitine palmitoyltransferase I deficiency
Variation info
Gene CPT1A
CLNDBN Carnitine palmitoyltransferase I deficiency
Reversed 1
HGVS NC_000011.9:g.68529033_68529034insTTTT
CLNSRC
CLNACC RCV000409196.1,