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rs515726176

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs515726176(A;A)
Make rs515726176(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position53210819
GeneCPT2
is asnp
is mentioned by
dbSNPrs515726176
ebirs515726176
HLIrs515726176
Exacrs515726176
Varsomers515726176
Maprs515726176
PheGenIrs515726176
hapmaprs515726176
1000 genomesrs515726176
hgdprs515726176
ensemblrs515726176
gopubmedrs515726176
geneviewrs515726176
scholarrs515726176
googlers515726176
pharmgkbrs515726176
gwascentralrs515726176
openSNPrs515726176
23andMers515726176
23andMe allrs515726176
SNP Nexus

SNPshotrs515726176
SNPdbers515726176
MSV3drs515726176
GWAS Ctlgrs515726176
Max Magnitude0
ClinVar
Risk rs515726176(A,C;A,C)
Alt rs515726176(A,C;A,C)
Reference rs515726176(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.53676491G>A
CLNSRC
CLNACC RCV000202539.1,