Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F ×
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: rs879253779
rs879253779 		1.000 1 184072258 missense variant A/G snv
CUI: C4310757
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F 		0.800 1.000 2 2015 2016
dbSNP: rs879253780
rs879253780 		1.000 1 184054856 missense variant C/T snv 7.0E-06
CUI: C4310757
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F 		0.800 1.000 2 2015 2016
dbSNP: rs730882223
rs730882223 		0.851 0.120 1 184054736 missense variant T/G snv
CUI: C4310757
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F 		0.800 0