ATXN2, ataxin 2, 6311

N. diseases: 341; N. variants: 50
Disease: Glaucoma, Open-Angle ×
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: rs7137828
rs7137828 		0.763 0.200 12 111494996 intron variant C/A;T snv
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		Eye Diseases 0.700 1.000 1 2016 2016