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rs386134202

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386134202(A;A)
Make rs386134202(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position132385443
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs386134202
ebirs386134202
HLIrs386134202
Exacrs386134202
Varsomers386134202
Maprs386134202
PheGenIrs386134202
hapmaprs386134202
1000 genomesrs386134202
hgdprs386134202
ensemblrs386134202
gopubmedrs386134202
geneviewrs386134202
scholarrs386134202
googlers386134202
pharmgkbrs386134202
gwascentralrs386134202
openSNPrs386134202
23andMers386134202
23andMe allrs386134202
SNP Nexus

SNPshotrs386134202
SNPdbers386134202
MSV3drs386134202
GWAS Ctlgrs386134202
Max Magnitude0
ClinVar
Risk rs386134202(A;A)
Alt rs386134202(A;A)
Reference rs386134202(G;G)
Significance Untested
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131721135G>A
CLNSRC ARUP SLC22A5
CLNACC RCV000022343.2,


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