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rs74315297

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs74315297(C;C)
Make rs74315297(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position53211016
GeneCPT2
is asnp
is mentioned by
dbSNPrs74315297
ebirs74315297
HLIrs74315297
Exacrs74315297
Varsomers74315297
Maprs74315297
PheGenIrs74315297
hapmaprs74315297
1000 genomesrs74315297
hgdprs74315297
ensemblrs74315297
gopubmedrs74315297
geneviewrs74315297
scholarrs74315297
googlers74315297
pharmgkbrs74315297
gwascentralrs74315297
openSNPrs74315297
23andMers74315297
23andMe allrs74315297
SNP Nexus

SNPshotrs74315297
SNPdbers74315297
MSV3drs74315297
GWAS Ctlgrs74315297
Max Magnitude0
OMIM600650
Desc
Variant0009
Relatedalso
ClinVar
Risk rs74315297(C;C)
Alt rs74315297(C;C)
Reference rs74315297(T;T)
Significance Pathogenic
Disease Carnitine palmitoyltransferase II deficiency not provided Carnitine palmitoyltransferase II deficiency
Variation info
Gene CPT2
CLNDBN Carnitine palmitoyltransferase II deficiency, late-onset not provided Carnitine palmitoyltransferase II deficiency
Reversed 0
HGVS NC_000001.10:g.53676688T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009520.2, RCV000178040.1, RCV000202478.1, RCV000202553.1,