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rs186044004

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs186044004(A;A)
Make rs186044004(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position53213264
GeneCPT2
is asnp
is mentioned by
dbSNPrs186044004
ClinGenrs186044004
ebirs186044004
HLIrs186044004
Exacrs186044004
Varsomers186044004
Maprs186044004
PheGenIrs186044004
hapmaprs186044004
1000 genomesrs186044004
hgdprs186044004
ensemblrs186044004
gopubmedrs186044004
geneviewrs186044004
scholarrs186044004
googlers186044004
pharmgkbrs186044004
gwascentralrs186044004
openSNPrs186044004
23andMers186044004
23andMe allrs186044004
SNP Nexus

SNPshotrs186044004
SNPdbers186044004
MSV3drs186044004
GWAS Ctlgrs186044004
Max Magnitude0
ClinVar
Risk rs186044004(A;A)
Alt rs186044004(A;A)
Reference Rs186044004(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.53678936G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000202475.1,