Have questions? Visit https://www.reddit.com/r/SNPedia

rs72552725

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs72552725(A;G)
Make rs72552725(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position132370067
GeneMIR4750, SLC22A5
is asnp
is mentioned by
dbSNPrs72552725
ebirs72552725
HLIrs72552725
Exacrs72552725
Varsomers72552725
Maprs72552725
PheGenIrs72552725
hapmaprs72552725
1000 genomesrs72552725
hgdprs72552725
ensemblrs72552725
gopubmedrs72552725
geneviewrs72552725
scholarrs72552725
googlers72552725
pharmgkbrs72552725
gwascentralrs72552725
openSNPrs72552725
23andMers72552725
23andMe allrs72552725
SNP Nexus

SNPshotrs72552725
SNPdbers72552725
MSV3drs72552725
GWAS Ctlgrs72552725
Max Magnitude0
ClinVar
Risk rs72552725(G;G)
Alt rs72552725(G;G)
Reference rs72552725(A;A)
Significance Untested
Disease Renal carnitine transport defect
Variation info
Gene LOC553103 SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131705759A>G
CLNSRC ARUP SLC22A5
CLNACC RCV000022302.2,



[PMID 12210323] Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.