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: rs28357984
rs28357984
COX1 ; ND2
0.851 0.160 MT 5178 missense variant C/A snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.020 1.000 2 2007 2009
dbSNP: rs199476123
rs199476123
COX1 ; ND1 ; ND2
0.882 0.200 MT 3946 missense variant G/A snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.010 1.000 1 2017 2017
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: rs28357984
rs28357984
COX1 ; ND2
0.851 0.160 MT 5178 missense variant C/A snv
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		0.010 1.000 1 2005 2005
dbSNP: rs28357984
rs28357984
COX1 ; ND2
0.851 0.160 MT 5178 missense variant C/A snv
CUI: C0025281
Disease: Meniere Disease
Meniere Disease 		0.010 1.000 1 2013 2013
dbSNP: rs28357984
rs28357984
COX1 ; ND2
0.851 0.160 MT 5178 missense variant C/A snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 1.000 1 2004 2004
dbSNP: rs28357984
rs28357984
COX1 ; ND2
0.851 0.160 MT 5178 missense variant C/A snv
CUI: C4275242
Disease: Sudden sensorineural hearing loss
Sudden sensorineural hearing loss 		0.010 1.000 1 2013 2013
dbSNP: rs28357984
rs28357984
COX1 ; ND2
0.851 0.160 MT 5178 missense variant C/A snv
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		0.010 1.000 1 2005 2005
dbSNP: rs3021088
rs3021088
COX1 ; ND2
0.925 0.120 MT 5460 missense variant G/A snv
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs3021088
rs3021088
COX1 ; ND2
0.925 0.120 MT 5460 missense variant G/A snv
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 1.000 1 2012 2012
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