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rs515726179

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGAAGGCCTTAGA;AGAAGGCCTTAGA) 0 common in clinvar
Make rs515726179(-;-)
Make rs515726179(-;GAAGGCCTTAGAA)
Make rs515726179(GAAGGCCTTAGAA;GAAGGCCTTAGAA)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position53213541
GeneCPT2
is asnp
is mentioned by
dbSNPrs515726179
dbSNP (old)rs515726179
ClinGenrs515726179
ebirs515726179
HLIrs515726179
Exacrs515726179
Varsomers515726179
Maprs515726179
PheGenIrs515726179
Biobankrs515726179
1000 genomesrs515726179
hgdprs515726179
ensemblrs515726179
gopubmedrs515726179
geneviewrs515726179
scholarrs515726179
googlers515726179
pharmgkbrs515726179
gwascentralrs515726179
openSNPrs515726179
23andMers515726179
23andMe allrs515726179
SNP Nexus

SNPshotrs515726179
SNPdbers515726179
MSV3drs515726179
GWAS Ctlgrs515726179
Max Magnitude0
ClinVar
Risk rs515726179(-;-)
Alt rs515726179(-;-)
Reference Rs515726179(AGAAGGCCTTAGA;AGAAGGCCTTAGA)
Significance Pathogenic
Disease Carnitine palmitoyltransferase II deficiency
Variation info
Gene CPT2
CLNDBN Carnitine palmitoyltransferase II deficiency
Reversed 0
HGVS NC_000001.10:g.53679213_53679225delGAAGGCCTTAGAA
CLNSRC
CLNACC RCV000202522.1,