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rs72552726

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72552726(G;T)
Make rs72552726(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132370220
GeneMIR4750, SLC22A5
is asnp
is mentioned by
dbSNPrs72552726
ebirs72552726
HLIrs72552726
Exacrs72552726
Varsomers72552726
Maprs72552726
PheGenIrs72552726
hapmaprs72552726
1000 genomesrs72552726
hgdprs72552726
ensemblrs72552726
gopubmedrs72552726
geneviewrs72552726
scholarrs72552726
googlers72552726
pharmgkbrs72552726
gwascentralrs72552726
openSNPrs72552726
23andMers72552726
23andMe allrs72552726
SNP Nexus

SNPshotrs72552726
SNPdbers72552726
MSV3drs72552726
GWAS Ctlgrs72552726
Max Magnitude0
ClinVar
Risk rs72552726(T;T)
Alt rs72552726(T;T)
Reference rs72552726(G;G)
Significance Pathogenic
Disease Renal carnitine transport defect not provided
Variation info
Gene LOC553103 SLC22A5
CLNDBN Renal carnitine transport defect not provided
Reversed 0
HGVS NC_000005.9:g.131705912G>T
CLNSRC ARUP SLC22A5 HGMD
CLNACC RCV000022308.5, RCV000186132.2,



[PMID 15617188] Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.