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rs1055176086

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position68799217
GeneCPT1A
is asnp
is mentioned by
dbSNPrs1055176086
dbSNP (old)rs1055176086
ClinGenrs1055176086
ebirs1055176086
HLIrs1055176086
Exacrs1055176086
Gnomadrs1055176086
Varsomers1055176086
Maprs1055176086
PheGenIrs1055176086
Biobankrs1055176086
1000 genomesrs1055176086
hgdprs1055176086
ensemblrs1055176086
gopubmedrs1055176086
geneviewrs1055176086
scholarrs1055176086
googlers1055176086
pharmgkbrs1055176086
gwascentralrs1055176086
openSNPrs1055176086
23andMers1055176086
23andMe allrs1055176086
SNPshotrs1055176086
SNPdbers1055176086
MSV3drs1055176086
GWAS Ctlgrs1055176086
Max Magnitude0
ClinVar
Risk rs1055176086(G;G)
Alt rs1055176086(G;G)
Reference Rs1055176086(C;C)
Significance Probable-Pathogenic
Disease Carnitine palmitoyltransferase I deficiency
Variation info
Gene
CLNDBN Carnitine palmitoyltransferase I deficiency
Reversed 0
HGVS NC_000011.9:g.68566685C>G
CLNSRC
CLNACC RCV000409157.1,