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rs386134209

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386134209(-;-)
Make rs386134209(-;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position132387039
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs386134209
ebirs386134209
HLIrs386134209
Exacrs386134209
Varsomers386134209
Maprs386134209
PheGenIrs386134209
hapmaprs386134209
1000 genomesrs386134209
hgdprs386134209
ensemblrs386134209
gopubmedrs386134209
geneviewrs386134209
scholarrs386134209
googlers386134209
pharmgkbrs386134209
gwascentralrs386134209
openSNPrs386134209
23andMers386134209
23andMe allrs386134209
SNP Nexus

SNPshotrs386134209
SNPdbers386134209
MSV3drs386134209
GWAS Ctlgrs386134209
Max Magnitude0
ClinVar
Risk rs386134209(;)
Alt rs386134209(;)
Reference rs386134209(C;C)
Significance Untested
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131722731delC
CLNSRC ClinVar
CLNACC RCV000022352.2,


[PMID 12210323] Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.