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

rs386134211

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386134211(G;T)
Make rs386134211(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132387049
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs386134211
ebirs386134211
HLIrs386134211
Exacrs386134211
Varsomers386134211
Maprs386134211
PheGenIrs386134211
hapmaprs386134211
1000 genomesrs386134211
hgdprs386134211
ensemblrs386134211
gopubmedrs386134211
geneviewrs386134211
scholarrs386134211
googlers386134211
pharmgkbrs386134211
gwascentralrs386134211
openSNPrs386134211
23andMers386134211
23andMe allrs386134211
SNP Nexus

SNPshotrs386134211
SNPdbers386134211
MSV3drs386134211
GWAS Ctlgrs386134211
Max Magnitude0
ClinVar
Risk rs386134211(T;T)
Alt rs386134211(T;T)
Reference rs386134211(G;G)
Significance Untested
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131722741G>T
CLNSRC ARUP SLC22A5
CLNACC RCV000022356.2,


[PMID 10545605] Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency.