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rs72552728

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72552728(G;T)
Make rs72552728(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132385400
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs72552728
ebirs72552728
HLIrs72552728
Exacrs72552728
Varsomers72552728
Maprs72552728
PheGenIrs72552728
hapmaprs72552728
1000 genomesrs72552728
hgdprs72552728
ensemblrs72552728
gopubmedrs72552728
geneviewrs72552728
scholarrs72552728
googlers72552728
pharmgkbrs72552728
gwascentralrs72552728
openSNPrs72552728
23andMers72552728
23andMe allrs72552728
SNP Nexus

SNPshotrs72552728
SNPdbers72552728
MSV3drs72552728
GWAS Ctlgrs72552728
Max Magnitude0
ClinVar
Risk rs72552728(T;T)
Alt rs72552728(T;T)
Reference rs72552728(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.131721092G>T
CLNSRC ARUP SLC22A5
CLNACC RCV000022340.2,



[PMID 11058897] Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.