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rs72552724

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72552724(G;T)
Make rs72552724(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132370055
GeneMIR4750, SLC22A5
is asnp
is mentioned by
dbSNPrs72552724
ebirs72552724
HLIrs72552724
Exacrs72552724
Varsomers72552724
Maprs72552724
PheGenIrs72552724
hapmaprs72552724
1000 genomesrs72552724
hgdprs72552724
ensemblrs72552724
gopubmedrs72552724
geneviewrs72552724
scholarrs72552724
googlers72552724
pharmgkbrs72552724
gwascentralrs72552724
openSNPrs72552724
23andMers72552724
23andMe allrs72552724
SNP Nexus

SNPshotrs72552724
SNPdbers72552724
MSV3drs72552724
GWAS Ctlgrs72552724
Max Magnitude0
ClinVar
Risk rs72552724(T;T)
Alt rs72552724(T;T)
Reference rs72552724(G;G)
Significance Untested
Disease Renal carnitine transport defect
Variation info
Gene LOC553103 SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131705747G>T
CLNSRC ARUP SLC22A5
CLNACC RCV000022301.2,



[PMID 12408185] Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency.