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rs397509431

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs397509431(-;-)
Make rs397509431(-;AG)
ReferenceGRCh38 38.1/141
Chromosome1
Position53210912
GeneCPT2
is asnp
is mentioned by
dbSNPrs397509431
ebirs397509431
HLIrs397509431
Exacrs397509431
Varsomers397509431
Maprs397509431
PheGenIrs397509431
hapmaprs397509431
1000 genomesrs397509431
hgdprs397509431
ensemblrs397509431
gopubmedrs397509431
geneviewrs397509431
scholarrs397509431
googlers397509431
pharmgkbrs397509431
gwascentralrs397509431
openSNPrs397509431
23andMers397509431
23andMe allrs397509431
SNP Nexus

SNPshotrs397509431
SNPdbers397509431
MSV3drs397509431
GWAS Ctlgrs397509431
Max Magnitude0
ClinVar
Risk rs397509431(;)
Alt rs397509431(;)
Reference rs397509431(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, RCV000185837.1, RCV000202516.1, RCV000202553.1,