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rs515726177

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs515726177(A;A)
Make rs515726177(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position53210126
GeneCPT2
is asnp
is mentioned by
dbSNPrs515726177
ebirs515726177
HLIrs515726177
Exacrs515726177
Varsomers515726177
Maprs515726177
PheGenIrs515726177
hapmaprs515726177
1000 genomesrs515726177
hgdprs515726177
ensemblrs515726177
gopubmedrs515726177
geneviewrs515726177
scholarrs515726177
googlers515726177
pharmgkbrs515726177
gwascentralrs515726177
openSNPrs515726177
23andMers515726177
23andMe allrs515726177
SNP Nexus

SNPshotrs515726177
SNPdbers515726177
MSV3drs515726177
GWAS Ctlgrs515726177
Max Magnitude0
ClinVar
Risk rs515726177(A;A)
Alt rs515726177(A;A)
Reference rs515726177(G;G)
Significance Pathogenic
Disease Carnitine palmitoyltransferase II deficiency
Variation info
Gene CPT2
CLNDBN Carnitine palmitoyltransferase II deficiency
Reversed 0
HGVS NC_000001.10:g.53675798G>A
CLNSRC
CLNACC RCV000202567.1,