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rs386134200

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386134200(A;A)
Make rs386134200(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position132384302
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs386134200
ebirs386134200
HLIrs386134200
Exacrs386134200
Varsomers386134200
Maprs386134200
PheGenIrs386134200
hapmaprs386134200
1000 genomesrs386134200
hgdprs386134200
ensemblrs386134200
gopubmedrs386134200
geneviewrs386134200
scholarrs386134200
googlers386134200
pharmgkbrs386134200
gwascentralrs386134200
openSNPrs386134200
23andMers386134200
23andMe allrs386134200
SNP Nexus

SNPshotrs386134200
SNPdbers386134200
MSV3drs386134200
GWAS Ctlgrs386134200
Max Magnitude0
ClinVar
Risk rs386134200(A,T;A,T)
Alt rs386134200(A,T;A,T)
Reference rs386134200(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.131719994G>A
CLNSRC ARUP SLC22A5
CLNACC RCV000022334.2,


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