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rs74315300

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs74315300(A;G)
Make rs74315300(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position53210312
GeneCPT2
is asnp
is mentioned by
dbSNPrs74315300
ebirs74315300
HLIrs74315300
Exacrs74315300
Varsomers74315300
Maprs74315300
PheGenIrs74315300
hapmaprs74315300
1000 genomesrs74315300
hgdprs74315300
ensemblrs74315300
gopubmedrs74315300
geneviewrs74315300
scholarrs74315300
googlers74315300
pharmgkbrs74315300
gwascentralrs74315300
openSNPrs74315300
23andMers74315300
23andMe allrs74315300
SNP Nexus

SNPshotrs74315300
SNPdbers74315300
MSV3drs74315300
GWAS Ctlgrs74315300
Max Magnitude0
OMIM600650
Desc
Variant0016
Relatedalso
ClinVar
Risk rs74315300(G;G)
Alt rs74315300(G;G)
Reference rs74315300(A;A)
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.53675984A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009529.2,