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

rs386134222

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386134222(C;T)
Make rs386134222(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132392574
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs386134222
ebirs386134222
HLIrs386134222
Exacrs386134222
Varsomers386134222
Maprs386134222
PheGenIrs386134222
hapmaprs386134222
1000 genomesrs386134222
hgdprs386134222
ensemblrs386134222
gopubmedrs386134222
geneviewrs386134222
scholarrs386134222
googlers386134222
pharmgkbrs386134222
gwascentralrs386134222
openSNPrs386134222
23andMers386134222
23andMe allrs386134222
SNP Nexus

SNPshotrs386134222
SNPdbers386134222
MSV3drs386134222
GWAS Ctlgrs386134222
Max Magnitude0
ClinVar
Risk rs386134222(T;T)
Alt rs386134222(T;T)
Reference rs386134222(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.131728266C>T
CLNSRC ARUP SLC22A5
CLNACC RCV000022381.2,


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