VRK1, VRK serine/threonine kinase 1, 7443

N. diseases: 79; N. variants: 13
Disease: Pontocerebellar Hypoplasia Type 1 ×
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: rs371295780
rs371295780 		1.000 0.080 14 96847326 missense variant A/G snv 2.8E-05 2.8E-05
CUI: C1843504
Disease: Pontocerebellar Hypoplasia Type 1
Pontocerebellar Hypoplasia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2016 2016