FDXR, ferredoxin reductase, 2232

N. diseases: 103; N. variants: 7
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: rs752143061
rs752143061 		1.000 17 74864234 missense variant G/A snv 2.9E-05 4.2E-05
CUI: C4521678
Disease: AUDITORY NEUROPATHY AND OPTIC ATROPHY
AUDITORY NEUROPATHY AND OPTIC ATROPHY 		0.700 1.000 1 2017 2017
dbSNP: rs1313895172
rs1313895172 		1.000 17 74863166 stop gained G/A;T snv 4.0E-06
CUI: C4521678
Disease: AUDITORY NEUROPATHY AND OPTIC ATROPHY
AUDITORY NEUROPATHY AND OPTIC ATROPHY 		0.700 0
dbSNP: rs1555620021
rs1555620021 		1.000 17 74864898 missense variant G/C snv
CUI: C4521678
Disease: AUDITORY NEUROPATHY AND OPTIC ATROPHY
AUDITORY NEUROPATHY AND OPTIC ATROPHY 		0.700 0
dbSNP: rs997026784
rs997026784 		1.000 17 74862864 missense variant C/T snv
CUI: C4521678
Disease: AUDITORY NEUROPATHY AND OPTIC ATROPHY
AUDITORY NEUROPATHY AND OPTIC ATROPHY 		0.700 0
dbSNP: rs571448378
rs571448378 		0.882 0.120 17 74872110 stop gained G/A;C snv 4.1E-06; 4.1E-06 1.4E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2001 2001
dbSNP: rs571448378
rs571448378 		0.882 0.120 17 74872110 stop gained G/A;C snv 4.1E-06; 4.1E-06 1.4E-05
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs571448378
rs571448378 		0.882 0.120 17 74872110 stop gained G/A;C snv 4.1E-06; 4.1E-06 1.4E-05
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs571448378
rs571448378 		0.882 0.120 17 74872110 stop gained G/A;C snv 4.1E-06; 4.1E-06 1.4E-05
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs571448378
rs571448378 		0.882 0.120 17 74872110 stop gained G/A;C snv 4.1E-06; 4.1E-06 1.4E-05
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs766147142
rs766147142 		0.925 0.040 17 74863112 missense variant C/A;G;T snv 8.0E-06
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs766147142
rs766147142 		0.925 0.040 17 74863112 missense variant C/A;G;T snv 8.0E-06
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs770691402
rs770691402 		1.000 0.040 17 74866514 missense variant C/T snv 4.0E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs770691402
rs770691402 		1.000 0.040 17 74866514 missense variant C/T snv 4.0E-06
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		Eye Diseases 0.010 1.000 1 2010 2010