CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
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: rs1547014
rs1547014
1.000 0.040 22 28704723 intron variant T/C snv 0.64
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder
Eye Diseases 0.010 1.000 1 2012 2012