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rs72552732

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72552732(C;T)
Make rs72552732(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132392484
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs72552732
ebirs72552732
HLIrs72552732
Exacrs72552732
Varsomers72552732
Maprs72552732
PheGenIrs72552732
hapmaprs72552732
1000 genomesrs72552732
hgdprs72552732
ensemblrs72552732
gopubmedrs72552732
geneviewrs72552732
scholarrs72552732
googlers72552732
pharmgkbrs72552732
gwascentralrs72552732
openSNPrs72552732
23andMers72552732
23andMe allrs72552732
SNP Nexus

SNPshotrs72552732
SNPdbers72552732
MSV3drs72552732
GWAS Ctlgrs72552732
Max Magnitude0
ClinVar
Risk rs72552732(T;T)
Alt rs72552732(T;T)
Reference rs72552732(C;C)
Significance Pathogenic
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131728176C>T
CLNSRC ARUP SLC22A5 HGMD
CLNACC RCV000022372.5,



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