Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs199476128
rs199476128
ATP8 ; COX1 ; COX2
1.000 0.040 MT 6480 missense variant G/A snv
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.010 1.000 1 2016 2016
dbSNP: rs200165736
rs200165736
COX1 ; COX2
1.000 0.040 MT 6253 missense variant T/C snv
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.010 1.000 1 2016 2016
dbSNP: rs201336180
rs201336180
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; ND4L
0.925 0.200 MT 8684 missense variant C/T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2005 2005
dbSNP: rs201336180
rs201336180
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; ND4L
0.925 0.200 MT 8684 missense variant C/T snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.010 1.000 1 2008 2008
dbSNP: rs879053914
rs879053914
COX1 ; COX2
1.000 0.040 MT 6150 missense variant G/A snv
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.010 1.000 1 2018 2018