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rs386134213

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386134213(-;-)
Make rs386134213(-;A)
ReferenceGRCh38 38.1/141
Chromosome5
Position132388978
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs386134213
ebirs386134213
HLIrs386134213
Exacrs386134213
Varsomers386134213
Maprs386134213
PheGenIrs386134213
hapmaprs386134213
1000 genomesrs386134213
hgdprs386134213
ensemblrs386134213
gopubmedrs386134213
geneviewrs386134213
scholarrs386134213
googlers386134213
pharmgkbrs386134213
gwascentralrs386134213
openSNPrs386134213
23andMers386134213
23andMe allrs386134213
SNP Nexus

SNPshotrs386134213
SNPdbers386134213
MSV3drs386134213
GWAS Ctlgrs386134213
Max Magnitude0
ClinVar
Risk rs386134213(;)
Alt rs386134213(;)
Reference rs386134213(A;A)
Significance Untested
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131724670delA
CLNSRC ClinVar
CLNACC RCV000022359.2,


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