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rs144547521

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs144547521(C;T)
Make rs144547521(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132390830
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs144547521
ebirs144547521
HLIrs144547521
Exacrs144547521
Varsomers144547521
Maprs144547521
PheGenIrs144547521
hapmaprs144547521
1000 genomesrs144547521
hgdprs144547521
ensemblrs144547521
gopubmedrs144547521
geneviewrs144547521
scholarrs144547521
googlers144547521
pharmgkbrs144547521
gwascentralrs144547521
openSNPrs144547521
23andMers144547521
23andMe allrs144547521
SNP Nexus

SNPshotrs144547521
SNPdbers144547521
MSV3drs144547521
GWAS Ctlgrs144547521
Max Magnitude0
ClinVar
Risk rs144547521(T;T)
Alt rs144547521(T;T)
Reference rs144547521(C;C)
Significance Other
Disease Renal carnitine transport defect not provided
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect not provided
Reversed 0
HGVS NC_000005.9:g.131726522C>T
CLNSRC ARUP SLC22A5 HGMD
CLNACC RCV000022365.7, RCV000224074.1,


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