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rs11568513

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs11568513(A;A)
Make rs11568513(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position132392606
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs11568513
dbSNP (classic)rs11568513
ClinGenrs11568513
ebirs11568513
HLIrs11568513
Exacrs11568513
Gnomadrs11568513
Varsomers11568513
LitVarrs11568513
Maprs11568513
PheGenIrs11568513
Biobankrs11568513
1000 genomesrs11568513
hgdprs11568513
ensemblrs11568513
geneviewrs11568513
scholarrs11568513
googlers11568513
pharmgkbrs11568513
gwascentralrs11568513
openSNPrs11568513
23andMers11568513
SNPshotrs11568513
SNPdbers11568513
MSV3drs11568513
GWAS Ctlgrs11568513
GMAF0.001837
Max Magnitude0
ClinVar
Risk rs11568513(A;A) rs11568513(T;T)
Alt rs11568513(A;A) rs11568513(T;T)
Reference Rs11568513(G;G)
Significance Probable-non-pathogenic
Disease not specified Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN not specified Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131728298G>A; NC_000005.9:g.131728298G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000419453.1, RCV000022384.2,


[PMID 16931768] Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5).