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rs727503887

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727503887(C;T)
Make rs727503887(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position53210560
GeneCPT2
is asnp
is mentioned by
dbSNPrs727503887
ebirs727503887
HLIrs727503887
Exacrs727503887
Varsomers727503887
Maprs727503887
PheGenIrs727503887
hapmaprs727503887
1000 genomesrs727503887
hgdprs727503887
ensemblrs727503887
gopubmedrs727503887
geneviewrs727503887
scholarrs727503887
googlers727503887
pharmgkbrs727503887
gwascentralrs727503887
openSNPrs727503887
23andMers727503887
23andMe allrs727503887
SNP Nexus

SNPshotrs727503887
SNPdbers727503887
MSV3drs727503887
GWAS Ctlgrs727503887
Max Magnitude0
ClinVar
Risk rs727503887(T;T)
Alt rs727503887(T;T)
Reference rs727503887(C;C)
Significance Pathogenic
Disease Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency
Variation info
Gene CPT2
CLNDBN Carnitine palmitoyltransferase II deficiency, late-onset Carnitine palmitoyltransferase II deficiency, infantile
Reversed 0
HGVS NC_000001.10:g.53676232C>T
CLNSRC HGMD
CLNACC RCV000153105.3, RCV000169096.1,