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rs398123153

From SNPedia

Merged intors397509431
Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
(GA;GA) 0 common in clinvar
Make rs398123153(-;-)
Make rs398123153(-;GA)
ReferenceGRCh38 38.1/141
Chromosome1
Position53210913
GeneCPT2
is asnp
is mentioned by
dbSNPrs398123153
dbSNP (old)rs398123153
ClinGenrs398123153
ebirs398123153
HLIrs398123153
Exacrs398123153
Gnomadrs398123153
Varsomers398123153
Maprs398123153
PheGenIrs398123153
Biobankrs398123153
1000 genomesrs398123153
hgdprs398123153
ensemblrs398123153
gopubmedrs398123153
geneviewrs398123153
scholarrs398123153
googlers398123153
pharmgkbrs398123153
gwascentralrs398123153
openSNPrs398123153
23andMers398123153
23andMe allrs398123153
SNP Nexus

SNPshotrs398123153
SNPdbers398123153
MSV3drs398123153
GWAS Ctlgrs398123153
StatusMerged into rs397509431
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs398123153(AG;AG)
Significance Pathogenic
Disease Carnitine palmitoyltransferase II deficiency not provided Carnitine palmitoyltransferase II deficiency
Variation info
Gene CPT2
CLNDBN Carnitine palmitoyltransferase II deficiency, late-onset not provided Carnitine palmitoyltransferase II deficiency
Reversed 0
HGVS NC_000001.10:g.53676585_53676586delGA
CLNSRC HGMD
CLNACC RCV000009520.2, RCV000078117.4, RCV000185837.2, RCV000202516.1, RCV000202553.1,