Disease: Cystinosis ×
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: rs764168489
rs764168489 		0.925 0.080 17 3656569 missense variant T/C snv 4.0E-06
CUI: C4316899
Disease: Cystinosis
Cystinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0