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rs72552733

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72552733(G;T)
Make rs72552733(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132392501
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs72552733
ebirs72552733
HLIrs72552733
Exacrs72552733
Varsomers72552733
Maprs72552733
PheGenIrs72552733
hapmaprs72552733
1000 genomesrs72552733
hgdprs72552733
ensemblrs72552733
gopubmedrs72552733
geneviewrs72552733
scholarrs72552733
googlers72552733
pharmgkbrs72552733
gwascentralrs72552733
openSNPrs72552733
23andMers72552733
23andMe allrs72552733
SNP Nexus

SNPshotrs72552733
SNPdbers72552733
MSV3drs72552733
GWAS Ctlgrs72552733
Max Magnitude0
ClinVar
Risk rs72552733(T;T)
Alt rs72552733(T;T)
Reference rs72552733(G;G)
Significance Untested
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131728193G>T
CLNSRC ARUP SLC22A5
CLNACC RCV000022373.2,



[PMID 10612840] Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency.