SLC22A5, solute carrier family 22 member 5, 6584

N. diseases: 103; N. variants: 130
Disease: Renal carnitine transport defect ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72552722
rs72552722
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		G 0.700 CausalMutation CLINVAR Pharmacological rescue of carnitine transport in primary carnitine deficiency. 16652335 2006
dbSNP: rs72552722
rs72552722
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		G 0.700 CausalMutation CLINVAR Phenotype and genotype variation in primary carnitine deficiency. 11715001 2002