Have questions? Visit https://www.reddit.com/r/SNPedia

rs148059333

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs148059333(C;T)
Make rs148059333(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position68784814
GeneCPT1A
is asnp
is mentioned by
dbSNPrs148059333
dbSNP (classic)rs148059333
ClinGenrs148059333
ebirs148059333
HLIrs148059333
Exacrs148059333
Gnomadrs148059333
Varsomers148059333
LitVarrs148059333
Maprs148059333
PheGenIrs148059333
Biobankrs148059333
1000 genomesrs148059333
hgdprs148059333
ensemblrs148059333
geneviewrs148059333
scholarrs148059333
googlers148059333
pharmgkbrs148059333
gwascentralrs148059333
openSNPrs148059333
23andMers148059333
23andMe allrs148059333
SNPshotrs148059333
SNPdbers148059333
MSV3drs148059333
GWAS Ctlgrs148059333
Max Magnitude0
ClinVar
Risk rs148059333(T;T)
Alt rs148059333(T;T)
Reference Rs148059333(C;C)
Significance Probable-Pathogenic
Disease Carnitine palmitoyltransferase I deficiency
Variation info
Gene CPT1A
CLNDBN Carnitine palmitoyltransferase I deficiency
Reversed 0
HGVS NC_000011.9:g.68552282C>T
CLNSRC
CLNACC RCV000410681.1,