EXOSC8, exosome component 8, 11340

N. diseases: 22; N. variants: 3
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: rs36027220
rs36027220 		1.000 13 37009283 missense variant G/C snv 3.9E-03 4.0E-03
CUI: C4015160
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C 		0.800 1.000 1 2014 2014
dbSNP: rs606231285
rs606231285 		1.000 13 37000810 missense variant C/G;T snv
CUI: C4015160
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C 		0.800 0
dbSNP: rs1266703941
rs1266703941 		0.925 0.080 13 37002522 missense variant G/A;C snv 8.2E-06; 4.1E-06
CUI: C1843504
Disease: Pontocerebellar Hypoplasia Type 1
Pontocerebellar Hypoplasia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1266703941
rs1266703941 		0.925 0.080 13 37002522 missense variant G/A;C snv 8.2E-06; 4.1E-06
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		Nervous System Diseases 0.010 1.000 1 2018 2018