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rs74315296

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315296(C;T)
Make rs74315296(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position53211181
GeneCPT2
is asnp
is mentioned by
dbSNPrs74315296
ebirs74315296
HLIrs74315296
Exacrs74315296
Varsomers74315296
Maprs74315296
PheGenIrs74315296
hapmaprs74315296
1000 genomesrs74315296
hgdprs74315296
ensemblrs74315296
gopubmedrs74315296
geneviewrs74315296
scholarrs74315296
googlers74315296
pharmgkbrs74315296
gwascentralrs74315296
openSNPrs74315296
23andMers74315296
23andMe allrs74315296
SNP Nexus

SNPshotrs74315296
SNPdbers74315296
MSV3drs74315296
GWAS Ctlgrs74315296
Max Magnitude0
OMIM600650
Desc
Variant0008
Relatedalso
ClinVar
Risk rs74315296(T;T)
Alt rs74315296(T;T)
Reference rs74315296(C;C)
Significance Pathogenic
Disease Myopathy Carnitine palmitoyltransferase II deficiency
Variation info
Gene CPT2
CLNDBN Myopathy, variable Carnitine palmitoyltransferase II deficiency
Reversed 0
HGVS NC_000001.10:g.53676853C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009519.2, RCV000202513.1,