DOK2, docking protein 2, 9046

N. diseases: 35; N. variants: 3
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA ×
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: rs2242241
rs2242241 		0.925 0.200 8 21909370 missense variant A/C snv 1.0E-02 7.9E-03
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.010 1.000 1 2018 2018