SLC22A5, solute carrier family 22 member 5, 6584

N. diseases: 103; N. variants: 130
Disease: Renal carnitine transport defect ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs72552726
rs72552726 		1.000 0.160 5 132370220 missense variant G/T snv 2.7E-04 3.5E-05
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 23 1999 2017