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rs189174414

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs189174414(G;G)
Make rs189174414(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position68780734
GeneCPT1A
is asnp
is mentioned by
dbSNPrs189174414
ebirs189174414
HLIrs189174414
Exacrs189174414
Varsomers189174414
Maprs189174414
PheGenIrs189174414
hapmaprs189174414
1000 genomesrs189174414
hgdprs189174414
ensemblrs189174414
gopubmedrs189174414
geneviewrs189174414
scholarrs189174414
googlers189174414
pharmgkbrs189174414
gwascentralrs189174414
openSNPrs189174414
23andMers189174414
23andMe allrs189174414
SNP Nexus

SNPshotrs189174414
SNPdbers189174414
MSV3drs189174414
GWAS Ctlgrs189174414
Max Magnitude0
ClinVar
Risk rs189174414(G;G)
Alt rs189174414(G;G)
Reference rs189174414(T;T)
Significance Probable-Pathogenic
Disease Carnitine palmitoyltransferase I deficiency
Variation info
Gene CPT1A
CLNDBN Carnitine palmitoyltransferase I deficiency
Reversed 0
HGVS NC_000011.9:g.68548202T>G
CLNSRC
CLNACC RCV000169575.1,