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rs74315295

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs74315295(A;A)
Make rs74315295(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position53210822
GeneCPT2
is asnp
is mentioned by
dbSNPrs74315295
ebirs74315295
HLIrs74315295
Exacrs74315295
Varsomers74315295
Maprs74315295
PheGenIrs74315295
hapmaprs74315295
1000 genomesrs74315295
hgdprs74315295
ensemblrs74315295
gopubmedrs74315295
geneviewrs74315295
scholarrs74315295
googlers74315295
pharmgkbrs74315295
gwascentralrs74315295
openSNPrs74315295
23andMers74315295
23andMe allrs74315295
SNP Nexus

SNPshotrs74315295
SNPdbers74315295
MSV3drs74315295
GWAS Ctlgrs74315295
Max Magnitude0
OMIM600650
Desc
Variant0007
Relatedalso
ClinVar
Risk rs74315295(A;A)
Alt rs74315295(A;A)
Reference rs74315295(T;T)
Significance Pathogenic
Disease Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency
Variation info
Gene CPT2
CLNDBN Carnitine palmitoyltransferase II deficiency, infantile Carnitine palmitoyltransferase II deficiency, late-onset Carnitine palmitoyltransferase II deficiency
Reversed 0
HGVS NC_000001.10:g.53676494T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009517.2, RCV000009518.4, RCV000202462.1,