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rs121918528

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918528(A;G)
Make rs121918528(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position53210033
GeneCPT2
is asnp
is mentioned by
dbSNPrs121918528
ebirs121918528
HLIrs121918528
Exacrs121918528
Varsomers121918528
Maprs121918528
PheGenIrs121918528
hapmaprs121918528
1000 genomesrs121918528
hgdprs121918528
ensemblrs121918528
gopubmedrs121918528
geneviewrs121918528
scholarrs121918528
googlers121918528
pharmgkbrs121918528
gwascentralrs121918528
openSNPrs121918528
23andMers121918528
23andMe allrs121918528
SNP Nexus

SNPshotrs121918528
SNPdbers121918528
MSV3drs121918528
GWAS Ctlgrs121918528
Max Magnitude0
OMIM600650
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121918528(G;G)
Alt rs121918528(G;G)
Reference rs121918528(A;A)
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.53675705A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009530.2, RCV000202546.1,