Disease: Congenital pontocerebellar hypoplasia type 8 ×
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: rs397515426
rs397515426 		1.000 0.040 16 89651586 stop gained G/A snv 4.0E-06 1.4E-04
CUI: C3554209
Disease: Congenital pontocerebellar hypoplasia type 8
Congenital pontocerebellar hypoplasia type 8 		Nervous System Diseases 0.700 0
dbSNP: rs398122918
rs398122918 		1.000 0.040 16 89651659 intron variant C/A;T snv 4.0E-06; 8.1E-06
CUI: C3554209
Disease: Congenital pontocerebellar hypoplasia type 8
Congenital pontocerebellar hypoplasia type 8 		Nervous System Diseases 0.700 0