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rs74315298

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315298(C;T)
Make rs74315298(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position53210354
GeneCPT2
is asnp
is mentioned by
dbSNPrs74315298
ebirs74315298
HLIrs74315298
Exacrs74315298
Varsomers74315298
Maprs74315298
PheGenIrs74315298
hapmaprs74315298
1000 genomesrs74315298
hgdprs74315298
ensemblrs74315298
gopubmedrs74315298
geneviewrs74315298
scholarrs74315298
googlers74315298
pharmgkbrs74315298
gwascentralrs74315298
openSNPrs74315298
23andMers74315298
23andMe allrs74315298
SNP Nexus

SNPshotrs74315298
SNPdbers74315298
MSV3drs74315298
GWAS Ctlgrs74315298
Max Magnitude0
OMIM600650
Desc
Variant0013
Relatedalso
ClinVar
Risk rs74315298(T;T)
Alt rs74315298(T;T)
Reference rs74315298(C;C)
Significance Pathogenic
Disease Carnitine palmitoyltransferase II deficiency not provided Carnitine palmitoyltransferase II deficiency
Variation info
Gene CPT2
CLNDBN Carnitine palmitoyltransferase II deficiency, lethal neonatal not provided Carnitine palmitoyltransferase II deficiency
Reversed 0
HGVS NC_000001.10:g.53676026C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009526.2, RCV000185840.1, RCV000202466.1,