SLC25A3, solute carrier family 25 member 3, 5250

N. diseases: 112; N. variants: 1
Disease: Mitochondrial Phosphate Carrier Deficiency ×
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: rs104894375
rs104894375 		1.000 0.040 12 98595490 missense variant G/A snv
CUI: C1835845
Disease: Mitochondrial Phosphate Carrier Deficiency
Mitochondrial Phosphate Carrier Deficiency 		Nutritional and Metabolic Diseases 0.800 1.000 1 2007 2007