Have questions? Visit https://www.reddit.com/r/SNPedia

rs74315293

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315293(C;T)
Make rs74315293(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position53213509
GeneCPT2
is asnp
is mentioned by
dbSNPrs74315293
ebirs74315293
HLIrs74315293
Exacrs74315293
Varsomers74315293
Maprs74315293
PheGenIrs74315293
hapmaprs74315293
1000 genomesrs74315293
hgdprs74315293
ensemblrs74315293
gopubmedrs74315293
geneviewrs74315293
scholarrs74315293
googlers74315293
pharmgkbrs74315293
gwascentralrs74315293
openSNPrs74315293
23andMers74315293
23andMe allrs74315293
SNP Nexus

SNPshotrs74315293
SNPdbers74315293
MSV3drs74315293
GWAS Ctlgrs74315293
Max Magnitude0
OMIM600650
Desc
Variant0001
Relatedalso
ClinVar
Risk rs74315293(T;T)
Alt rs74315293(T;T)
Reference rs74315293(C;C)
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.53679181C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009508.2, RCV000009509.4, RCV000202472.1,