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rs28936375

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28936375(A;A)
Make rs28936375(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position53197092
GeneCPT2
is asnp
is mentioned by
dbSNPrs28936375
ebirs28936375
HLIrs28936375
Exacrs28936375
Varsomers28936375
Maprs28936375
PheGenIrs28936375
hapmaprs28936375
1000 genomesrs28936375
hgdprs28936375
ensemblrs28936375
gopubmedrs28936375
geneviewrs28936375
scholarrs28936375
googlers28936375
pharmgkbrs28936375
gwascentralrs28936375
openSNPrs28936375
23andMers28936375
23andMe allrs28936375
SNP Nexus

SNPshotrs28936375
SNPdbers28936375
MSV3drs28936375
GWAS Ctlgrs28936375
Max Magnitude0
OMIM600650
DescCARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
Variant0003
Relatedalso
ClinVar
Risk rs28936375(A;A)
Alt rs28936375(A;A)
Reference rs28936375(C;C)
Significance Pathogenic
Disease Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency
Variation info
Gene CPT2
CLNDBN Carnitine palmitoyltransferase II deficiency, late-onset Carnitine palmitoyltransferase II deficiency, infantile Carnitine palmitoyltransferase II deficiency
Reversed 0
HGVS NC_000001.10:g.53662764C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009511.2, RCV000009512.3, RCV000202440.1,