NOP56, NOP56 ribonucleoprotein, 10528

N. diseases: 64; N. variants: 1
Disease: Spinocerebellar ataxia 36 ×
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: rs1555779353
rs1555779353 		1.000 0.080 20 2652733 non coding transcript exon variant GGCCTGGGCCTG/-;GGCCTG;GGCCTGGGCCTGGGCCTG;GGCCTGGGCCTGGGCCTGGGCCTG;GGCCTGGGCCTGGGCCTGGGCCTGGGCCTG;GGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTG;GGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTG;GGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTG;GGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTG;GGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTG;GGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTG;GGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTG;GGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTG delins
CUI: C3472711
Disease: Spinocerebellar ataxia 36
Spinocerebellar ataxia 36 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0