Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 3 (disorder) ×
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: rs746260871
rs746260871 		1.000 0.080 7 82949964 stop gained G/A;C;T snv
CUI: C1842687
Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 3 (disorder)
PONTOCEREBELLAR HYPOPLASIA TYPE 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0