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rs74315299

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315299(G;T)
Make rs74315299(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position53211034
GeneCPT2
is asnp
is mentioned by
dbSNPrs74315299
ebirs74315299
HLIrs74315299
Exacrs74315299
Varsomers74315299
Maprs74315299
PheGenIrs74315299
hapmaprs74315299
1000 genomesrs74315299
hgdprs74315299
ensemblrs74315299
gopubmedrs74315299
geneviewrs74315299
scholarrs74315299
googlers74315299
pharmgkbrs74315299
gwascentralrs74315299
openSNPrs74315299
23andMers74315299
23andMe allrs74315299
SNP Nexus

SNPshotrs74315299
SNPdbers74315299
MSV3drs74315299
GWAS Ctlgrs74315299
Max Magnitude0
OMIM600650
Desc
Variant0015
Relatedalso
ClinVar
Risk rs74315299(T;T)
Alt rs74315299(T;T)
Reference rs74315299(G;G)
Significance Pathogenic
Disease Carnitine palmitoyltransferase II deficiency
Variation info
Gene CPT2
CLNDBN Carnitine palmitoyltransferase II deficiency, late-onset
Reversed 0
HGVS NC_000001.10:g.53676706G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009528.4,