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rs28936674

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28936674(A;A)
Make rs28936674(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position53210194
GeneCPT2
is asnp
is mentioned by
dbSNPrs28936674
ebirs28936674
HLIrs28936674
Exacrs28936674
Varsomers28936674
Maprs28936674
PheGenIrs28936674
hapmaprs28936674
1000 genomesrs28936674
hgdprs28936674
ensemblrs28936674
gopubmedrs28936674
geneviewrs28936674
scholarrs28936674
googlers28936674
pharmgkbrs28936674
gwascentralrs28936674
openSNPrs28936674
23andMers28936674
23andMe allrs28936674
SNP Nexus

SNPshotrs28936674
SNPdbers28936674
MSV3drs28936674
GWAS Ctlgrs28936674
Max Magnitude0
OMIM600650
DescCARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
Variant0006
Relatedalso
Neighborrs1799821
Distance582


ClinVar
Risk rs28936674(A;A)
Alt rs28936674(A;A)
Reference rs28936674(G;G)
Significance Pathogenic
Disease Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency
Variation info
Gene CPT2
CLNDBN Carnitine palmitoyltransferase II deficiency, infantile Carnitine palmitoyltransferase II deficiency
Reversed 0
HGVS NC_000001.10:g.53675866G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009516.2, RCV000202437.1,