rs1554088578, SLC22A5

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Renal carnitine transport defect
CUI: C0342788
Disease: Renal carnitine transport defect
0.700 GeneticVariation CLINVAR PDZK1 directly regulates the function of organic cation/carnitine transporter OCTN2. 15523054 2005