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rs386134210

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386134210(A;A)
Make rs386134210(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position132387045
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs386134210
ebirs386134210
HLIrs386134210
Exacrs386134210
Varsomers386134210
Maprs386134210
PheGenIrs386134210
hapmaprs386134210
1000 genomesrs386134210
hgdprs386134210
ensemblrs386134210
gopubmedrs386134210
geneviewrs386134210
scholarrs386134210
googlers386134210
pharmgkbrs386134210
gwascentralrs386134210
openSNPrs386134210
23andMers386134210
23andMe allrs386134210
SNP Nexus

SNPshotrs386134210
SNPdbers386134210
MSV3drs386134210
GWAS Ctlgrs386134210
Max Magnitude0
ClinVar
Risk rs386134210(A;A)
Alt rs386134210(A;A)
Reference rs386134210(G;G)
Significance Pathogenic
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131722737G>A
CLNSRC ARUP SLC22A5
CLNACC RCV000022354.5,


[PMID 16652335] Pharmacological rescue of carnitine transport in primary carnitine deficiency.