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rs72552734

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72552734(A;A)
Make rs72552734(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position132392519
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs72552734
ebirs72552734
HLIrs72552734
Exacrs72552734
Varsomers72552734
Maprs72552734
PheGenIrs72552734
hapmaprs72552734
1000 genomesrs72552734
hgdprs72552734
ensemblrs72552734
gopubmedrs72552734
geneviewrs72552734
scholarrs72552734
googlers72552734
pharmgkbrs72552734
gwascentralrs72552734
openSNPrs72552734
23andMers72552734
23andMe allrs72552734
SNP Nexus

SNPshotrs72552734
SNPdbers72552734
MSV3drs72552734
GWAS Ctlgrs72552734
Max Magnitude0
ClinVar
Risk rs72552734(A;A)
Alt rs72552734(A;A)
Reference rs72552734(G;G)
Significance Probable-Pathogenic
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.131728211G>A
CLNSRC ARUP SLC22A5 HGMD
CLNACC RCV000022377.3, RCV000153964.3,



[PMID 10679939] A missense mutation in the OCTN2 gene associated with residual carnitine transport activity.