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rs386134208

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386134208(C;T)
Make rs386134208(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132387039
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs386134208
ebirs386134208
HLIrs386134208
Exacrs386134208
Varsomers386134208
Maprs386134208
PheGenIrs386134208
hapmaprs386134208
1000 genomesrs386134208
hgdprs386134208
ensemblrs386134208
gopubmedrs386134208
geneviewrs386134208
scholarrs386134208
googlers386134208
pharmgkbrs386134208
gwascentralrs386134208
openSNPrs386134208
23andMers386134208
23andMe allrs386134208
SNP Nexus

SNPshotrs386134208
SNPdbers386134208
MSV3drs386134208
GWAS Ctlgrs386134208
Max Magnitude0
ClinVar
Risk rs386134208(T;T)
Alt rs386134208(T;T)
Reference rs386134208(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.131722731C>T
CLNSRC ARUP SLC22A5
CLNACC RCV000022351.2,


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