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rs386134221

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386134221(C;G)
Make rs386134221(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position132392568
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs386134221
ebirs386134221
HLIrs386134221
Exacrs386134221
Varsomers386134221
Maprs386134221
PheGenIrs386134221
hapmaprs386134221
1000 genomesrs386134221
hgdprs386134221
ensemblrs386134221
gopubmedrs386134221
geneviewrs386134221
scholarrs386134221
googlers386134221
pharmgkbrs386134221
gwascentralrs386134221
openSNPrs386134221
23andMers386134221
23andMe allrs386134221
SNP Nexus

SNPshotrs386134221
SNPdbers386134221
MSV3drs386134221
GWAS Ctlgrs386134221
Max Magnitude0
ClinVar
Risk rs386134221(A,G;A,G)
Alt rs386134221(A,G;A,G)
Reference rs386134221(C;C)
Significance Probable-Pathogenic
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131728260C>G
CLNSRC ARUP SLC22A5
CLNACC RCV000022380.3,


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