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rs11568514

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs11568514(G;G)
Make rs11568514(G;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132392510
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs11568514
ebirs11568514
HLIrs11568514
Exacrs11568514
Varsomers11568514
Maprs11568514
PheGenIrs11568514
hapmaprs11568514
1000 genomesrs11568514
hgdprs11568514
ensemblrs11568514
gopubmedrs11568514
geneviewrs11568514
scholarrs11568514
googlers11568514
pharmgkbrs11568514
gwascentralrs11568514
openSNPrs11568514
23andMers11568514
23andMe allrs11568514
SNP Nexus

SNPshotrs11568514
SNPdbers11568514
MSV3drs11568514
GWAS Ctlgrs11568514
GMAF0.0004591
Max Magnitude0
? (G;G) (G;T) (T;T) 28
ClinVar
Risk rs11568514(G;G)
Alt rs11568514(G;G)
Reference rs11568514(T;T)
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.131728202T>G
CLNSRC ARUP SLC22A5 HGMD
CLNACC RCV000022376.2, RCV000080049.6,



? (G;T) (T;T)


[PMID 14665638] Tyrosine residues affecting sodium stimulation of carnitine transport in the OCTN2 carnitine/organic cation transporter.