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rs28936376

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28936376(A;A)
Make rs28936376(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position53213275
GeneCPT2
is asnp
is mentioned by
dbSNPrs28936376
ebirs28936376
HLIrs28936376
Exacrs28936376
Varsomers28936376
Maprs28936376
PheGenIrs28936376
hapmaprs28936376
1000 genomesrs28936376
hgdprs28936376
ensemblrs28936376
gopubmedrs28936376
geneviewrs28936376
scholarrs28936376
googlers28936376
pharmgkbrs28936376
gwascentralrs28936376
openSNPrs28936376
23andMers28936376
23andMe allrs28936376
SNP Nexus

SNPshotrs28936376
SNPdbers28936376
MSV3drs28936376
GWAS Ctlgrs28936376
Max Magnitude0
OMIM600650
DescCARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
Variant0004
Relatedalso
ClinVar
Risk rs28936376(A;A)
Alt rs28936376(A;A)
Reference rs28936376(G;G)
Significance Pathogenic
Disease Carnitine palmitoyltransferase II deficiency
Variation info
Gene CPT2
CLNDBN Carnitine palmitoyltransferase II deficiency, late-onset
Reversed 0
HGVS NC_000001.10:g.53678947G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009513.2,