SOD2, superoxide dismutase 2, 6648

N. diseases: 668; N. variants: 32
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: rs2842980
rs2842980
1.000 0.040 6 159679084 3 prime UTR variant A/T snv 0.77
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4880
rs4880
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
Eye Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs5746136
rs5746136
0.807 0.200 6 159682052 3 prime UTR variant C/T snv 0.27
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs6917589
rs6917589
0.882 0.120 6 159678228 3 prime UTR variant T/C snv 0.22
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
Eye Diseases 0.010 < 0.001 1 2015 2015