Disease: Olivopontocerebellar hypoplasia, fetal-onset ×
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: rs113994152
rs113994152 		0.790 0.160 17 75522000 missense variant G/T snv 9.0E-04 9.0E-04
CUI: C1857762
Disease: Olivopontocerebellar hypoplasia, fetal-onset
Olivopontocerebellar hypoplasia, fetal-onset 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 1 2011 2011
dbSNP: rs886037740
rs886037740 		1.000 0.080 17 75517657 splice donor variant T/C snv
CUI: C1857762
Disease: Olivopontocerebellar hypoplasia, fetal-onset
Olivopontocerebellar hypoplasia, fetal-onset 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0