RNF216, ring finger protein 216, 54476

N. diseases: 47; N. variants: 9
Disease: Leukodystrophy ×
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: rs730882248
rs730882248 		0.925 0.160 7 5711761 splice region variant C/T snv
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0